ClinVar Miner

List of variants reported as likely pathogenic for Albinism by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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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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