List of variants in gene XPC reported as pathogenic by Medical Molecular Genetics Department, National Research Center

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2251-1G>C	rs754673606	0.00006
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.1643_1644del (p.Val548fs)	rs754532049
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter)	rs3731139
NM_004628.5(XPC):c.2127del (p.Ser711fs)	rs1695569595
NM_004628.5(XPC):c.395_398del (p.Asp132fs)	rs1696563531
NM_004628.5(XPC):c.524_525dup (p.Arg176fs)	rs1696466639
NM_004628.5(XPC):c.669_670del (p.Ile223fs)	rs1696343406

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