ClinVar Miner

List of variants reported as likely benign for Xeroderma pigmentosum group A by Illumina Laboratory Services, Illumina

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.754C>G (p.Leu252Val) rs3176750 0.01065
NM_000380.4(XPA):c.766A>G (p.Met256Val) rs57519506 0.00899
NM_000380.4(XPA):c.289G>A (p.Val97Ile) rs10983315 0.00019
NM_000380.4(XPA):c.172+11C>T rs766386535 0.00009
NM_000380.4(XPA):c.568T>G (p.Ser190Ala) rs555812588 0.00002

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