List of variants reported as likely pathogenic for Albinism

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	rs142931246	0.00025
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000550.3(TYRP1):c.1261+1G>A	rs140365820	0.00021
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	rs28940876	0.00018
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)	rs749979474	0.00004
NM_001922.5(DCT):c.118T>A (p.Cys40Ser)	rs370729240	0.00003
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)	rs1384042381	0.00001
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser)	rs62635042
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)	rs62635045
NM_000275.3(OCA2):c.646+1825_807+679del
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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