ClinVar Miner

List of variants in gene ERCC2 reported as likely benign for Xeroderma pigmentosum

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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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