ClinVar Miner

List of variants in gene ERCC6 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2082G>A (p.Pro694=) rs35182583 0.00918
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815 0.00246
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216 0.00234
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988 0.00083
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494 0.00082
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly) rs56089364 0.00041
NM_000124.4(ERCC6):c.4063-5T>C rs186482480 0.00016
NM_000124.4(ERCC6):c.909G>T (p.Thr303=) rs371906160 0.00014
NM_000124.4(ERCC6):c.1575G>A (p.Gln525=) rs36032377 0.00012
NM_000124.4(ERCC6):c.3534T>C (p.Phe1178=) rs4253210 0.00009
NM_000124.4(ERCC6):c.3581A>G (p.Glu1194Gly) rs114479292 0.00009
NM_000124.4(ERCC6):c.4017C>T (p.Phe1339=) rs200428567 0.00007
NM_000124.4(ERCC6):c.3300T>C (p.Asn1100=) rs1192287179 0.00001
NM_000124.4(ERCC6):c.993C>T (p.His331=) rs1192651141 0.00001
NM_000124.4(ERCC6):c.1527-8T>G
NM_000124.4(ERCC6):c.3108A>G (p.Leu1036=) rs988596074
NM_000124.4(ERCC6):c.4152C>G (p.Leu1384=) rs765804876
NM_000124.4(ERCC6):c.660G>C (p.Gly220=)
NM_000124.4(ERCC6):c.810C>T (p.Gly270=)

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