List of variants in gene ERCC2 reported as likely benign 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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.699C>T (p.Phe233=)	rs141816180	0.00248
NM_000400.4(ERCC2):c.687C>T (p.Ala229=)	rs34021577	0.00234
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=)	rs147605089	0.00146
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)	rs138038607	0.00113
NM_000400.4(ERCC2):c.1266C>T (p.Asp422=)	rs142702501	0.00102
NM_000400.4(ERCC2):c.633C>T (p.Tyr211=)	rs112910027	0.00073
NM_000400.4(ERCC2):c.138C>T (p.Thr46=)	rs141391238	0.00068
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)	rs16979773	0.00044
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)	rs142936491	0.00029
NM_000400.4(ERCC2):c.1842C>T (p.Tyr614=)	rs148319713	0.00025
NM_000400.4(ERCC2):c.1278G>A (p.Pro426=)	rs148469762	0.00023
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)	rs145835916	0.00022
NM_000400.4(ERCC2):c.1119-5G>A	rs369538318	0.00021
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)	rs1799792	0.00016
NM_000400.4(ERCC2):c.988C>T (p.Leu330=)	rs146022050	0.00016
NM_000400.4(ERCC2):c.1518C>A (p.Ser506=)	rs544159896	0.00015
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)	rs368708674	0.00012
NM_000400.4(ERCC2):c.156G>A (p.Leu52=)	rs202156896	0.00011
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=)	rs762985501	0.00011
NM_000400.4(ERCC2):c.297C>T (p.Gly99=)	rs200953364	0.00010
NM_000400.4(ERCC2):c.1903-11C>T	rs370777762	0.00009
NM_000400.4(ERCC2):c.873G>A (p.Gly291=)	rs552090174	0.00008
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=)	rs199551160	0.00006
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)	rs531021258	0.00004
NM_000400.4(ERCC2):c.1146G>C (p.Leu382=)	rs372468267	0.00003
NM_000400.4(ERCC2):c.294G>C (p.Glu98Asp)	rs145947678	0.00002
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)	rs571718677	0.00001
NM_000400.4(ERCC2):c.978C>T (p.Ala326=)	rs746258199	0.00001

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