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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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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.349_353del (p.Leu117fs)	rs1200172747
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)	rs149226993
NM_000380.4(XPA):c.648_649del (p.Lys217fs)	rs1057519018
NM_000380.4(XPA):c.689dup (p.Arg231fs)	rs2131379218

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