ClinVar Miner

List of variants in gene OCA2 reported as pathogenic for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
NG_009846.1:g.103171_225796del
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs) rs1555375711
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168
NM_000275.3(OCA2):c.1044+1G>T rs185504549
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)
NM_000275.3(OCA2):c.1182+1G>A rs371963034
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.1842+1G>T rs387906240
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)
NM_000275.3(OCA2):c.807+1G>T rs763219039
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
Single allele
nsv1197574

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