ClinVar Miner

List of variants in gene ERCC2 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP
ERCC2, 2-BP DEL, 1781TT
ERCC2, 3-BP DEL/6-BP INS, NT1823
ERCC2, 4-BP DEL, NT668
NM_000400.3(ERCC2):c.*31G>A rs886054494
NM_000400.3(ERCC2):c.1118+4C>G rs762719901
NM_000400.3(ERCC2):c.121G>T (p.Glu41Ter) rs1568546252
NM_000400.3(ERCC2):c.1237+5G>A rs761017664
NM_000400.3(ERCC2):c.1276C>T (p.Pro426Ser) rs577723968
NM_000400.3(ERCC2):c.1363A>G (p.Ile455Val) rs754585006
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1404C>T (p.Pro468=) rs886054497
NM_000400.3(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.3(ERCC2):c.147A>G (p.Thr49=) rs147826890
NM_000400.3(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019
NM_000400.3(ERCC2):c.1644C>T (p.Thr548=) rs375824454
NM_000400.3(ERCC2):c.1649C>T (p.Ala550Val) rs886054496
NM_000400.3(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.3(ERCC2):c.1737C>T (p.Val579=) rs3916876
NM_000400.3(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000400.3(ERCC2):c.183+2T>A rs201127596
NM_000400.3(ERCC2):c.184-1G>T rs1568546120
NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.3(ERCC2):c.1904C>T (p.Ala635Val) rs34517175
NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) rs145835916
NM_000400.3(ERCC2):c.1962C>T (p.Phe654=) rs762985501
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2083C>T (p.Arg695Cys) rs201392911
NM_000400.3(ERCC2):c.2094G>A (p.Gln698=) rs886054495
NM_000400.3(ERCC2):c.2127C>T (p.Thr709=) rs147128863
NM_000400.3(ERCC2):c.2128G>A (p.Val710Met) rs141808167
NM_000400.3(ERCC2):c.2142C>G (p.Val714=) rs546902024
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000400.3(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.3(ERCC2):c.2190+12G>A rs3916881
NM_000400.3(ERCC2):c.2191-3C>T rs748611039
NM_000400.3(ERCC2):c.2231T>C (p.Leu744Pro) rs201370106
NM_000400.3(ERCC2):c.2260G>C (p.Glu754Gln) rs200022901
NM_000400.3(ERCC2):c.298G>T (p.Glu100Ter) rs964247601
NM_000400.3(ERCC2):c.308C>T (p.Pro103Leu) rs142462393
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) rs121913020
NM_000400.3(ERCC2):c.452_461del (p.Ser151fs) rs1568543189
NM_000400.3(ERCC2):c.477+9A>C rs1799785
NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
NM_000400.3(ERCC2):c.5+6A>C rs751637822
NM_000400.3(ERCC2):c.545C>T (p.Ala182Val) rs142936491
NM_000400.3(ERCC2):c.572C>T (p.Pro191Leu) rs886054499
NM_000400.3(ERCC2):c.594+2_594+5del rs762309206
NM_000400.3(ERCC2):c.601C>T (p.His201Tyr) rs1799792
NM_000400.3(ERCC2):c.691G>A (p.Val231Met) rs200895828
NM_000400.3(ERCC2):c.718+6G>T rs3916812
NM_000400.3(ERCC2):c.740T>C (p.Met247Thr) rs372176415
NM_000400.3(ERCC2):c.749A>C (p.Asn250Thr) rs753889198
NM_000400.3(ERCC2):c.816-2A>G rs746795177
NM_000400.3(ERCC2):c.902C>A (p.Thr301Lys) rs199863965
NM_000400.3(ERCC2):c.946C>G (p.Gln316Glu) rs757790912
NM_000400.3(ERCC2):c.949+9C>T rs529824119
NM_000400.3(ERCC2):c.950-13C>A rs886054498
NM_000400.3(ERCC2):c.988C>T (p.Leu330=) rs146022050
NM_000400.4(ERCC2):c.*68G>A
NM_000400.4(ERCC2):c.*70C>T
NM_000400.4(ERCC2):c.*78C>A
NM_000400.4(ERCC2):c.1307+14C>G
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)
NM_000400.4(ERCC2):c.1349G>A (p.Arg450His)
NM_000400.4(ERCC2):c.1377+8C>T rs370862494
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258
NM_000400.4(ERCC2):c.156G>A (p.Leu52=) rs202156896
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met)
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=)
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys)
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) rs138038607
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)
NM_000400.4(ERCC2):c.1832-6C>T rs1799789
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)
NM_000400.4(ERCC2):c.184-5G>C
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile)
NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys)
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)
NM_000400.4(ERCC2):c.2010C>T (p.Gly670=)
NM_000400.4(ERCC2):c.2048G>A rs758439420
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555
NM_000400.4(ERCC2):c.2190+11C>T
NM_000400.4(ERCC2):c.2191-4G>A rs201840907
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181
NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe)
NM_000400.4(ERCC2):c.229G>A (p.Val77Met)
NM_000400.4(ERCC2):c.32A>G (p.Tyr11Cys)
NM_000400.4(ERCC2):c.348T>C (p.Cys116=)
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) rs199993007
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406
NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser)
NM_000400.4(ERCC2):c.552G>C (p.Gly184=) rs769750286
NM_000400.4(ERCC2):c.57C>T (p.Pro19=)
NM_000400.4(ERCC2):c.607A>G (p.Asn203Asp)
NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn) rs200443634
NM_000400.4(ERCC2):c.739A>G (p.Met247Val)
NM_000400.4(ERCC2):c.902C>T (p.Thr301Met)
NM_000400.4(ERCC2):c.930G>C (p.Leu310=)
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793
NM_000400.4(ERCC2):c.949+3G>T
NM_000400.4(ERCC2):c.978C>G (p.Ala326=)

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