ClinVar Miner

List of variants in gene ERCC3 studied for hereditary epidermal appendage anomaly

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00933
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904 0.00085
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) rs149309991 0.00051
NM_000122.2(ERCC3):c.1730+16T>G rs202086538 0.00036
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) rs529637184 0.00016
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter) rs150954655 0.00015
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) rs145762413 0.00005
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) rs768687646 0.00004
NM_000122.2(ERCC3):c.350A>G (p.Lys117Arg) rs1805161 0.00004
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000122.2(ERCC3):c.1348A>G (p.Met450Val) rs200291162 0.00003
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs) rs774261851 0.00002
NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg) rs199934696 0.00002
NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) rs370115857 0.00002
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) rs1055129064 0.00001
NM_000122.2(ERCC3):c.1457C>T (p.Pro486Leu) rs759152503 0.00001
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter) rs1302552127 0.00001
NM_000122.2(ERCC3):c.1996G>A (p.Asp666Asn) rs587778275 0.00001
NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys) rs374262917 0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) rs763315862 0.00001
NM_000122.2(ERCC3):c.657+1G>A rs56116802 0.00001
NM_000122.2(ERCC3):c.1018C>T (p.Leu340Phe)
NM_000122.2(ERCC3):c.1114del (p.Glu372fs)
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.1628C>G (p.Ala543Gly)
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000122.2(ERCC3):c.1828-1G>C
NM_000122.2(ERCC3):c.1832del (p.Gly611fs)
NM_000122.2(ERCC3):c.2146G>A (p.Val716Ile)
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.2(ERCC3):c.518A>G (p.Asn173Ser)
NM_000122.2(ERCC3):c.701G>A (p.Arg234Gln) rs1249110579

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.