List of variants in gene XPC reported as pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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.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.739C>T (p.Arg247Ter)	rs764321665	0.00001
NM_004628.5(XPC):c.128del (p.Pro43fs)	rs1260189637
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs)	rs794729654
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)	rs767569346
NM_004628.5(XPC):c.2287del (p.Leu763fs)	rs1553604559
NM_004628.5(XPC):c.342_343del (p.Ala116fs)	rs1228981894
NM_004628.5(XPC):c.420_423del (p.Glu141fs)	rs1330667099
NM_004628.5(XPC):c.445_446del (p.Glu149fs)	rs1402162002
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)	rs752088918

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