List of variants in gene ERCC2 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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)	rs147972150	0.00125
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn)	rs143710107	0.00034
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	rs121913016	0.00030
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met)	rs142568756	0.00026
NM_000400.4(ERCC2):c.1378-8C>T	rs558250151	0.00019
NM_000400.4(ERCC2):c.1349G>A (p.Arg450His)	rs146632315	0.00016
NM_000400.4(ERCC2):c.1665+4C>T	rs148416328	0.00015
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln)	rs150000483	0.00008
NM_000400.4(ERCC2):c.373C>T (p.Arg125Cys)	rs372425466	0.00007
NM_000400.4(ERCC2):c.2128G>A (p.Val710Met)	rs141808167	0.00005
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)	rs139884931	0.00004
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile)	rs372960848	0.00003
NM_000400.4(ERCC2):c.1479+3G>A	rs929447513	0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His)	rs746618110	0.00002
NM_000400.4(ERCC2):c.1105C>T (p.Arg369Cys)	rs974354644	0.00001
NM_000400.4(ERCC2):c.1343T>C (p.Phe448Ser)	rs41559922	0.00001
NM_000400.4(ERCC2):c.1419C>A (p.Phe473Leu)	rs1359215642	0.00001
NM_000400.4(ERCC2):c.1666-4C>T	rs761821592	0.00001
NM_000400.4(ERCC2):c.1832-7C>T	rs1410724947	0.00001
NM_000400.4(ERCC2):c.184-6C>T	rs763639137	0.00001
NM_000400.4(ERCC2):c.1894A>C (p.Ile632Leu)	rs1027684347	0.00001
NM_000400.4(ERCC2):c.2241G>C (p.Glu747Asp)	rs774480587	0.00001
NM_000400.4(ERCC2):c.1237+5G>C	rs761017664
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln)	rs140522180
NM_000400.4(ERCC2):c.183+4A>G	rs1972522411
NM_000400.4(ERCC2):c.1832-3C>G	rs1971859134
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	rs200665173
NM_000400.4(ERCC2):c.2017G>A (p.Asp673Asn)	rs2123223978
NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu)	rs1260724831
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln)	rs759412116
NM_000400.4(ERCC2):c.895C>T (p.Arg299Trp)	rs760337216

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