ClinVar Miner

List of variants studied for albinism by Laboratoire de Génétique Moléculaire, CHU Bordeaux

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 0.00003
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) rs1882493359
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) rs1885297366

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