ClinVar Miner

List of variants in gene ERCC6 reported by Ambry Genetics

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519 0.00063
NM_000124.4(ERCC6):c.886A>G (p.Arg296Gly) rs115643329 0.00046
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu) rs115876786 0.00024
NM_000124.4(ERCC6):c.565A>G (p.Thr189Ala) rs138822457 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2077T>A (p.Phe693Ile) rs199921831 0.00006
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) rs139913322 0.00006
NM_000124.4(ERCC6):c.530A>G (p.Gln177Arg) rs141372606 0.00006
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.3643G>A (p.Ala1215Thr) rs377041857 0.00003
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000124.4(ERCC6):c.1916A>G (p.Asp639Gly) rs367546930 0.00002
NM_000124.4(ERCC6):c.2601G>T (p.Met867Ile) rs761558075 0.00002
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.143G>A (p.Arg48His) rs780434796 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter) rs999171980 0.00001
NM_000124.4(ERCC6):c.1712T>C (p.Ile571Thr)
NM_000124.4(ERCC6):c.1813C>T (p.His605Tyr)
NM_000124.4(ERCC6):c.1939G>A (p.Glu647Lys)
NM_000124.4(ERCC6):c.2047C>G (p.Arg683Gly)
NM_000124.4(ERCC6):c.2058G>C (p.Trp686Cys) rs751292948
NM_000124.4(ERCC6):c.2093G>A (p.Gly698Asp)
NM_000124.4(ERCC6):c.2338G>A (p.Val780Ile)
NM_000124.4(ERCC6):c.2372G>T (p.Gly791Val)
NM_000124.4(ERCC6):c.2647C>T (p.Leu883Phe)
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.3014T>A (p.Phe1005Tyr)
NM_000124.4(ERCC6):c.310G>C (p.Val104Leu)
NM_000124.4(ERCC6):c.3178A>C (p.Asn1060His)
NM_000124.4(ERCC6):c.3202T>A (p.Ser1068Thr)
NM_000124.4(ERCC6):c.3283C>G (p.Pro1095Ala)
NM_000124.4(ERCC6):c.3301G>A (p.Val1101Ile)
NM_000124.4(ERCC6):c.3322G>A (p.Gly1108Arg)
NM_000124.4(ERCC6):c.3491A>G (p.Gln1164Arg)
NM_000124.4(ERCC6):c.3526A>T (p.Asn1176Tyr)
NM_000124.4(ERCC6):c.3586C>G (p.Leu1196Val)
NM_000124.4(ERCC6):c.3811A>G (p.Ile1271Val)
NM_000124.4(ERCC6):c.3947G>T (p.Gly1316Val)
NM_000124.4(ERCC6):c.4220G>A (p.Ser1407Asn)
NM_000124.4(ERCC6):c.4273G>T (p.Asp1425Tyr)
NM_000124.4(ERCC6):c.766C>A (p.Gln256Lys)
NM_000124.4(ERCC6):c.803C>T (p.Ala268Val)
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.980G>A (p.Arg327His)

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