List of variants in gene XPC reported as uncertain significance for Xeroderma pigmentosum

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)	rs183238369	0.00126
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)	rs121965090	0.00098
NM_004628.5(XPC):c.1531A>C (p.Lys511Gln)	rs6413541	0.00052
NM_004628.5(XPC):c.749A>G (p.Asp250Gly)	rs201247727	0.00040
NM_004628.5(XPC):c.1009G>A (p.Glu337Lys)	rs541829970	0.00014
NM_004628.5(XPC):c.1781G>A (p.Arg594His)	rs147900621	0.00014
NM_004628.5(XPC):c.259G>C (p.Val87Leu)	rs374572265	0.00014
NM_004628.5(XPC):c.1022C>T (p.Ala341Val)	rs192285219	0.00013
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys)	rs533121927	0.00011
NM_004628.5(XPC):c.2572A>G (p.Arg858Gly)	rs779675386	0.00008
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly)	rs183167499	0.00006
NM_004628.5(XPC):c.*411dup	rs886058047	0.00004
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly)	rs563236303	0.00004
NM_004628.5(XPC):c.2153G>A (p.Arg718Gln)	rs373308689	0.00004
NM_004628.5(XPC):c.*428G>A	rs886058046	0.00003
NM_004628.5(XPC):c.352A>G (p.Met118Val)	rs967577305	0.00003
NM_004628.5(XPC):c.1913T>C (p.Ile638Thr)	rs752133677	0.00001
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys)	rs771891932	0.00001
NM_004628.5(XPC):c.205G>C (p.Gly69Arg)	rs533660155	0.00001
NM_004628.5(XPC):c.2655T>A (p.Asp885Glu)	rs776266193	0.00001
NM_004628.5(XPC):c.338A>G (p.Lys113Arg)	rs560354293	0.00001
NM_004628.5(XPC):c.160G>C (p.Gly54Arg)	rs1696674854
NM_004628.5(XPC):c.1803G>A (p.Glu601=)	rs1161680970
NM_004628.5(XPC):c.2116-10T>C	rs1695570524
NM_004628.5(XPC):c.2161G>A (p.Glu721Lys)	rs886058048
NM_004628.5(XPC):c.2514+9A>G	rs756795578
NM_004628.5(XPC):c.2605A>G (p.Ser869Gly)	rs1574946666
NM_004628.5(XPC):c.2633C>T (p.Ala878Val)	rs183167499
NM_004628.5(XPC):c.537-16dup	rs755812525
NM_004628.5(XPC):c.537-8_537-5del	rs1210551886

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