Table 3 Enriched and potentially deleterious variants in samples from England

From: Regionally enriched rare deleterious exonic variants in the UK and Ireland

ClinVar Variant Allele ID	Gene	Condition	Region	MAF_REG	Enrichment (vs MAF_NFE)	MAF_AVE	HOM_ALT range
226048	PEX6	Zellweger syndrome	Lancs	0.0022	73x	0.00030	[1,7]
32480	COL7A1	Dystrophic epidermolysis bullosa	Notts Lancs	0.0010 0.0008	65x 57x	0.00028	[0,1] [0,1]
186978	G6PC	Glycogen storage disease	Yorks	0.0009	62x	0.00011	[1,4]
185684	CLPB	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	Notts	0.0008	57x	0.00018	[0,1]
359454	COL7A1	Dystrophic epidermolysis bullosa	Yorks	0.0008	52x	0.00023	[1,3]
431680	PDE6A	Retinitis pigmentosa	Staffs	0.0007	48x	0.00016	[0,0]
19010	ALMS1	Alstrom syndrome	Lancs Staffs Notts	0.0020 0.0017 0.0012	27x 23x 16x	0.00064	[2,6] [2,3] [1,1]
611902	PEPD	Prolidase deficiency	Notts	0.0010	22x	0.00017	[0,1]
249211	FIG4	Amyotrophic lateral sclerosis	Notts	0.0006	20x	0.00018	[0,0]
190033	DRAM2	Retinal Dystrophy	Lancs	0.0012	20x	0.00031	[1,2]
100244	DYSF	Limb-girdle muscular dystrophy	Staffs	0.0010	14x	0.00026	[0,1]
100251	DYSF	Limb-girdle muscular dystrophy	Staffs	0.0010	14x	0.00015	[0,1]
26935	F11	Hereditary factor XI deficiency disease	Lancs Yorks	0.0013 0.0011	13x 10x	0.00039	[1,3] [2,7]
33396	CHRNE	Myasthenic syndrome	Lancs	0.0017	13x	0.00045	[1,4]
240612	DNAI1	Primary ciliary dyskinesia	Staffs	0.0011	11x	0.00021	[0,1]
29030	PNP	Purine-nucleoside phosphorylase deficiency	England NE	0.0012	10x	0.00026	[1,4]
443176	COL4A4	Alport syndrome	Staffs Lancs	0.0014 0.0013	9.6x 9.0x	0.00048	[1,2] [1,3]
203474	PNPO	Pyridoxal phosphate-responsive seizures	Staffs	0.0017	9.6x	0.00038	[1,3]
16237	MARVELD2	Deafness, autosomal recessive 49	Lancs	0.0015	8.5x	0.00043	[1,3]
272434	SLC7A9	Cystinuria	Lancs	0.0022	8.2x	0.00077	[3,7]
489962	TECTA	Nonsyndromic hearing loss and deafness	Notts	0.0012	5.8x	0.00034	[0,1]
76544	DNAH5	Primary Ciliary Dyskinesia	Lancs	0.0020	5.2x	0.00064	[2,6]

MAF_REG: regional MAF of the variant.
MAF_NFE: MAF of the variant in Non-Finnish European individuals in gnomAD.
MAF_AVE: average MAF of the variant in the dataset of 10,001 unrelated individuals from 20 UK and Ireland regions.
HOM_ALT range: predicted range of the regional number of individuals homozygous for the variant.

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Table 3 Enriched and potentially deleterious variants in samples from England

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