ClinVar Miner

List of variants in gene XPA reported as pathogenic for Xeroderma pigmentosum group A

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_000380.4(XPA):c.172+2T>G rs1587755557
NM_000380.4(XPA):c.266_267dup (p.Val90fs) rs759052378
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter) rs104894134
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000380.4(XPA):c.374del (p.Thr125fs) rs1828818571
NM_000380.4(XPA):c.389+1G>A rs1554701931
NM_000380.4(XPA):c.428_429del (p.Glu143fs) rs1554701540
NM_000380.4(XPA):c.520C>T (p.Gln174Ter)
NM_000380.4(XPA):c.540_541del (p.Tyr181fs) rs2131396482
NM_000380.4(XPA):c.545_546insTA (p.Leu182fs) rs786205205
NM_000380.4(XPA):c.553C>T (p.Gln185Ter) rs1828741490
NM_000380.4(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.4(XPA):c.640dup (p.Met214fs)
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124

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