Table 1 Rare pathogenic founder variants with a relative frequency difference of at least 10% in Beauce compared to UrbanQc and a carrier rate of 1/25 and higher
From: Rare variants and founder effect in the Beauce region of Quebec
HGVS name | Disease (ClinVar ID) | MAF NFE | CR Beauce | CR UrbanQc |
|---|---|---|---|---|
NM_001199251.3:c.67 A > G | Chronic atrial and intestinal dysrhythmia (162627) | 0.0002 | 1/11 | 1/127 |
NM_001698.3:c.656-2_656-1del | 3-methylglutaconic aciduria type 1 (1067674) | 0 | 1/12 | 1/889 |
NM_138694.4:c.6793 C > T | Autosomal recessive polycystic kidney disease (1946278) | 0 | 1/12 | 1/221 |
NM_025074.7:c.370 C > T | Fraser syndrome type 1 (197861) | 0.0002 | 1/13 | 1/445 |
NM_000022.4:c.956_960del | Severe combined immunodeficiency (193544) | 0.0002 | 1/15 | 1/222 |
NM_002225.5:c.932 C > T | Isovaleryl-CoA dehydrogenase deficiency (100060) | 0.0012 | 1/16 | 1/889 |
NM_015665.6:c.856 C > T | AAA syndrome (1322889) | 0.0001 | 1/16 | 1/445 |
NM_000521.4:c.1510 C > T | Sandhoff disease (3884) | 0 | 1/21 | 1/889 |
NM_001365999.1:c.6724 C > T | Developmental and epileptic encephalopathy type 18 (429775) | 0 | 1/21 | 0 |
NM_020458.4:c.1001+3_1001+6del | Gastrointestinal defects and immunodeficiency syndrome type 1 (50608) | 0 | 1/21 | 1/296 |
NM_024570.4:c.529 G > A | Aicardi-Goutieres syndrome | Cerebral palsy (1262) | 0.0024 | 1/21 | 1/74 |
NM_025137.4:c.6598 A > T | Hereditary spastic paraplegia type 11 | Amyotrophic lateral sclerosis type 5 | Charcot-Marie-Tooth disease axonal type 2X (572602) | 0 | 1/21 | 1/445 |
NM_182961.4:c.15918-12 A > G | Autosomal recessive cerebellar ataxia type 1 (2326) | 0 | 1/21 | 1/445 |
NM_000785.4:c.262del | Vitamin D-dependent rickets type 1 A (1664) | 0 | 1/25 | 0 |
NM_001042472.3:c.1054 C > T | PHARC syndrome (27) | 0 | 1/25 | 0 |
NM_173477.5:c.113 G > A | Usher syndrome type 1 G (2918) | 0 | 1/25 | 0 |
