ClinVar Miner

List of variants studied for Tyrosinase-positive oculocutaneous albinism by OMIM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171 0.00001
NM_000275.3(OCA2):c.1842+1G>T rs387906240 0.00001
NC_000015.10:g.28018399_28018559del rs1555375711
NG_009846.1:g.103171_225796del
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
nsv1197574

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