ClinVar Miner

List of variants reported as uncertain significance for Xeroderma pigmentosum, group D

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.*152T>C rs140285667 0.00158
NM_000400.4(ERCC2):c.*70C>T rs3916889 0.00129
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) rs138038607 0.00113
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) rs34517175 0.00068
NM_000400.4(ERCC2):c.1377+8C>T rs370862494 0.00044
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773 0.00044
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=) rs147128863 0.00041
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) rs116544270 0.00027
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NM_000400.4(ERCC2):c.2190+11C>T rs374737560 0.00019
NM_000400.4(ERCC2):c.1349G>A (p.Arg450His) rs146632315 0.00016
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.2083C>T (p.Arg695Cys) rs201392911 0.00014
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.1891C>T (p.Arg631Cys) rs144511865 0.00011
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=) rs762985501 0.00011
NM_000400.4(ERCC2):c.552G>C (p.Gly184=) rs769750286 0.00010
NM_000400.4(ERCC2):c.691G>A (p.Val231Met) rs200895828 0.00008
NM_000400.4(ERCC2):c.949+9C>T rs529824119 0.00008
NM_000400.4(ERCC2):c.2260G>C (p.Glu754Gln) rs200022901 0.00007
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00007
NM_000400.4(ERCC2):c.*31G>A rs886054494 0.00006
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) rs759116129 0.00006
NM_000400.4(ERCC2):c.740T>C (p.Met247Thr) rs372176415 0.00006
NM_000400.4(ERCC2):c.2128G>A (p.Val710Met) rs141808167 0.00005
NM_000400.4(ERCC2):c.*137G>A rs545076380 0.00004
NM_000400.4(ERCC2):c.*181G>T rs1048488855 0.00004
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00004
NM_000400.4(ERCC2):c.1644C>T (p.Thr548=) rs375824454 0.00003
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile) rs372960848 0.00003
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=) rs200756227 0.00003
NM_000400.4(ERCC2):c.57C>T (p.Pro19=) rs369106754 0.00003
NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn) rs200443634 0.00003
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys) rs190678702 0.00002
NM_000400.4(ERCC2):c.*167C>T rs200355865 0.00001
NM_000400.4(ERCC2):c.*224C>T rs771414914 0.00001
NM_000400.4(ERCC2):c.*78C>A rs544163707 0.00001
NM_000400.4(ERCC2):c.1237+5G>A rs761017664 0.00001
NM_000400.4(ERCC2):c.1363A>G (p.Ile455Val) rs754585006 0.00001
NM_000400.4(ERCC2):c.2142C>G (p.Val714=) rs546902024 0.00001
NM_000400.4(ERCC2):c.2191-3C>T rs748611039 0.00001
NM_000400.4(ERCC2):c.2231T>C (p.Leu744Pro) rs201370106 0.00001
NM_000400.4(ERCC2):c.348T>C (p.Cys116=) rs769231981 0.00001
NM_000400.4(ERCC2):c.902C>T (p.Thr301Met) rs199863965 0.00001
NM_000400.4(ERCC2):c.*119C>G rs560366651
NM_000400.4(ERCC2):c.*162G>T rs1162168169
NM_000400.4(ERCC2):c.*68G>A rs565650029
NM_000400.4(ERCC2):c.1118+4C>G rs762719901
NM_000400.4(ERCC2):c.1276C>T (p.Pro426Ser) rs577723968
NM_000400.4(ERCC2):c.1307+14C>G rs368946956
NM_000400.4(ERCC2):c.1404C>T (p.Pro468=) rs886054497
NM_000400.4(ERCC2):c.147A>G (p.Thr49=) rs147826890
NM_000400.4(ERCC2):c.1649C>T (p.Ala550Val) rs886054496
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000400.4(ERCC2):c.184-5G>C rs560956342
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.2066A>T (p.Lys689Met)
NM_000400.4(ERCC2):c.2094G>A (p.Gln698=) rs886054495
NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe) rs1971782991
NM_000400.4(ERCC2):c.229G>A (p.Val77Met) rs866646197
NM_000400.4(ERCC2):c.308C>T (p.Pro103Leu) rs142462393
NM_000400.4(ERCC2):c.32A>G (p.Tyr11Cys) rs748033766
NM_000400.4(ERCC2):c.452_461del (p.Ser151fs) rs1568543189
NM_000400.4(ERCC2):c.5+6A>C rs751637822
NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser) rs146137795
NM_000400.4(ERCC2):c.572C>T (p.Pro191Leu) rs886054499
NM_000400.4(ERCC2):c.607A>G (p.Asn203Asp) rs1972354891
NM_000400.4(ERCC2):c.739A>G (p.Met247Val) rs1972343102
NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr) rs753889198
NM_000400.4(ERCC2):c.902C>A (p.Thr301Lys) rs199863965
NM_000400.4(ERCC2):c.930G>C (p.Leu310=) rs1471014609
NM_000400.4(ERCC2):c.949+3G>T rs997825199
NM_000400.4(ERCC2):c.950-13C>A rs886054498
NM_000400.4(ERCC2):c.978C>G (p.Ala326=) rs746258199
NM_001983.4(ERCC1):c.122_123dup (p.Ser42fs) rs1231361408
NM_001983.4(ERCC1):c.422del (p.Leu141fs) rs1568585641

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