List of variants in gene XPA reported as likely 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr)	rs104894131
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)	rs1451780491
NM_000380.4(XPA):c.389G>A (p.Arg130Lys)	rs1324310300
NM_000380.4(XPA):c.428_429del (p.Glu143fs)	rs1554701540
NM_000380.4(XPA):c.666dup (p.Val223fs)	rs1554701103
NM_000380.4(XPA):c.673+1G>A	rs2131393093
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)

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