List of variants in gene XPC 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2251-1G>C	rs754673606	0.00006
NM_004628.5(XPC):c.877C>T (p.Arg293Ter)	rs373519125	0.00005
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)	rs757958943	0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	rs374117852	0.00004
NM_004628.5(XPC):c.622-2A>C	rs201940931	0.00003
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)	rs1450238352	0.00002
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)	rs121965088	0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter)	rs745679643	0.00001
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	rs754532049
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter)	rs1695999145
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)	rs754775337
NM_004628.5(XPC):c.420_423del (p.Glu141fs)	rs1330667099
NM_004628.5(XPC):c.463C>T (p.Arg155Ter)	rs755825264
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)	rs752088918

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