ClinVar Miner

List of variants in gene OCA2 reported as uncertain significance for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000275.3(OCA2):c.*166C>T rs182290687
NM_000275.3(OCA2):c.*21G>A rs369189827
NM_000275.3(OCA2):c.*300T>C rs776180839
NM_000275.3(OCA2):c.-109T>C rs886051027
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820
NM_000275.3(OCA2):c.1239+5G>C rs757119713
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) rs886051025
NM_000275.3(OCA2):c.1352C>A (p.Pro451His) rs886051024
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804
NM_000275.3(OCA2):c.1364+4C>T rs1800409
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe) rs886051023
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.1504-12_1504-9del rs886051022
NM_000275.3(OCA2):c.1553T>A (p.Leu518His) rs886051021
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) rs779086242
NM_000275.3(OCA2):c.1785-7C>G rs375281082
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719
NM_000275.3(OCA2):c.2145C>G (p.Val715=) rs779836224
NM_000275.3(OCA2):c.216C>G (p.Leu72=) rs766072141
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) rs762388937
NM_000275.3(OCA2):c.2432+11A>G rs145577954
NM_000275.3(OCA2):c.48G>A (p.Ala16=) rs371834997
NM_000275.3(OCA2):c.588A>C (p.Leu196=) rs374350218
NM_000275.3(OCA2):c.594G>A (p.Pro198=) rs762764142
NM_000275.3(OCA2):c.648C>T (p.Ser216=) rs886051026
NM_000275.3(OCA2):c.666C>T (p.His222=) rs751309779
NM_000275.3(OCA2):c.681del (p.Leu228fs) rs1566803740
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) rs759291231

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