ClinVar Miner

List of variants reported as likely benign for Oculocutaneous albinism

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014324.6(AMACR):c.*663G>A rs15612 0.21767
NM_014324.6(AMACR):c.*227T>G rs6863560 0.08265
NM_014324.6(AMACR):c.*963C>T rs6898962 0.04660
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114
NM_014324.6(AMACR):c.*1070C>T rs16892064 0.03353
NM_014324.6(AMACR):c.*1961G>A rs113746028 0.02910
NM_014324.6(AMACR):c.*1144A>G rs840380 0.02385
NM_014324.6(AMACR):c.*982C>T rs16892066 0.01163
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234 0.00733

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