ClinVar Miner

List of variants in gene ERCC6 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.*2766T>G rs141121035 0.00448
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_000124.4(ERCC6):c.*2729G>A rs535616736 0.00214
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.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188 0.00108
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923 0.00073
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519 0.00063
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613 0.00041
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602 0.00031
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 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.4216G>A (p.Glu1406Lys) rs145622432 0.00014
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) rs114490473 0.00007
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562 0.00007
NM_000124.4(ERCC6):c.4017C>T (p.Phe1339=) rs200428567 0.00007
NM_000124.4(ERCC6):c.2335T>G (p.Phe779Val) rs764456630 0.00004
NM_000124.4(ERCC6):c.352C>T (p.His118Tyr) rs377708438 0.00004
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972 0.00004
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.916G>T (p.Ala306Ser) rs760618206 0.00002
NM_000124.4(ERCC6):c.1606T>C (p.Leu536=) rs759447711 0.00001
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344 0.00001
NM_000124.4(ERCC6):c.2013C>T (p.Ile671=) rs546407915 0.00001
NM_000124.4(ERCC6):c.4230G>A (p.Gly1410=) rs765902760 0.00001
NM_000124.4(ERCC6):c.1005C>T (p.Leu335=)
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.1134G>A (p.Glu378=) rs2132620859
NM_000124.4(ERCC6):c.1762T>C (p.Trp588Arg)
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.233A>G (p.His78Arg)
NM_000124.4(ERCC6):c.3201A>C (p.Thr1067=) rs940129413
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3906G>A (p.Gln1302=)
NM_000124.4(ERCC6):c.4039A>G (p.Thr1347Ala)
NM_000124.4(ERCC6):c.544-1G>A rs901360414
NM_000124.4(ERCC6):c.555A>T (p.Leu185=) rs769733106

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