ClinVar Miner

List of variants in gene ERCC2 reported as pathogenic for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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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.121G>T (p.Glu41Ter) rs1568546252
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.3(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019
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.1972C>T (p.Arg658Cys) rs121913021
NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420
NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018
NM_000400.3(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.3(ERCC2):c.298G>T (p.Glu100Ter) rs964247601
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) rs121913020

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