ClinVar Miner

List of variants in gene XPA reported as uncertain significance for Xeroderma pigmentosum

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.234A>G (p.Glu78=) rs144543144 0.00051
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00017
NM_000380.4(XPA):c.599T>C (p.Leu200Ser) rs755803064 0.00008
NM_000380.4(XPA):c.773G>A (p.Arg258His) rs763929562 0.00006
NM_000380.4(XPA):c.390-13A>C rs373762653 0.00004
NM_000380.4(XPA):c.739G>A (p.Gly247Arg) rs963248210 0.00004
NM_000380.4(XPA):c.605A>C (p.Glu202Ala) rs200956475 0.00003
NM_000380.4(XPA):c.76G>C (p.Ala26Pro) rs766444854 0.00003
NM_000380.4(XPA):c.89G>A (p.Arg30Gln) rs760613920 0.00003
NM_000380.4(XPA):c.*234_*235del rs568435573
NM_000380.4(XPA):c.20C>T (p.Ala7Val) rs1228453951
NM_000380.4(XPA):c.472A>C (p.Arg158=) rs2131396614
NM_000380.4(XPA):c.482C>T (p.Pro161Leu) rs1828744402

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