ClinVar Miner

List of variants in gene OCA2 reported as benign for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404
NM_000275.3(OCA2):c.1183-4A>G rs10852218
NM_000275.3(OCA2):c.1365-15C>T rs12910433
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307

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