ClinVar Miner

List of variants in gene ERCC6 reported as benign

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.423-230T>C rs4253026 0.89987
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000124.4(ERCC6):c.3779-284A>G rs4838518 0.42135
NM_000124.4(ERCC6):c.3778+162C>T rs4240505 0.41806
NM_000124.4(ERCC6):c.1993-100G>A rs4240506 0.41596
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.3779-218G>A rs12220258 0.23261
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000124.4(ERCC6):c.1993-128G>A rs4253165 0.18859
NM_000124.4(ERCC6):c.543+277C>T rs4253028 0.18419
NM_000124.4(ERCC6):c.-14-156C>T rs4253011 0.18407
NM_000124.4(ERCC6):c.4063-165A>G rs4253226 0.16829
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10128
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.3779-192T>G rs12221460 0.09929
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_000124.4(ERCC6):c.652+135T>A rs4253040 0.09915
NM_000124.4(ERCC6):c.653-252G>T rs4253043 0.09914
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000124.4(ERCC6):c.3983+229G>A rs3810945 0.09572
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_000124.4(ERCC6):c.3984-195G>A rs4253223 0.06472
NM_000124.4(ERCC6):c.3779-131A>G rs41549314 0.06468
NM_000124.4(ERCC6):c.-14-227T>G rs1964145 0.06463
NM_000124.4(ERCC6):c.-14-59T>C rs1126112 0.06462
NM_000124.4(ERCC6):c.1992+233A>C rs4253164 0.06226
NM_000124.4(ERCC6):c.2170-38C>T rs11101139 0.05771
NM_000124.4(ERCC6):c.-15+232G>C rs4253008 0.04256
NM_000124.4(ERCC6):c.423-324C>T rs4253025 0.02568
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_000124.4(ERCC6):c.3779-290A>T rs74944791 0.01895
NM_000124.4(ERCC6):c.1822-171C>T rs4253161 0.01683
NM_000124.4(ERCC6):c.543+310A>G rs4253029 0.01584
NM_000124.4(ERCC6):c.1821+26T>C rs4253133 0.01581
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_000124.4(ERCC6):c.3659C>T (p.Thr1220Ile) rs34704611 0.00919
NM_000124.4(ERCC6):c.2082G>A (p.Pro694=) rs35182583 0.00918
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_000124.4(ERCC6):c.*2766T>G rs141121035 0.00448
NM_000124.4(ERCC6):c.3778+16C>T rs4253212 0.00363
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
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.3745G>A (p.Asp1249Asn) rs114234514 0.00234
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044 0.00191
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026 0.00191
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959 0.00118
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188 0.00108
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108 0.00090
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661 0.00087
NM_000124.4(ERCC6):c.962T>C (p.Leu321Pro) rs199899782 0.00066
NM_000124.4(ERCC6):c.795T>C (p.Leu265=) rs113887203 0.00058
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613 0.00041
NM_000124.4(ERCC6):c.385G>A (p.Val129Met) rs116360202 0.00038
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000124.4(ERCC6):c.4315G>C (p.Ala1439Pro) rs530673596 0.00014
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_000124.4(ERCC6):c.1800C>T (p.Thr600=) rs112314975 0.00002
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344 0.00001
NM_000124.4(ERCC6):c.*2946C>T rs146529081
NM_000124.4(ERCC6):c.2169+130_2169+131dup rs571372686
NM_000124.4(ERCC6):c.2169+130_2169+132dup rs571372686
NM_000124.4(ERCC6):c.2169+130dup rs571372686
NM_000124.4(ERCC6):c.2170-97dup rs369906037
NM_000124.4(ERCC6):c.2382+13dup
NM_000124.4(ERCC6):c.2925-3del rs771828895
NM_000124.4(ERCC6):c.2925-9dup rs771828895
NM_000124.4(ERCC6):c.3071-12del
NM_000124.4(ERCC6):c.310G>C (p.Val104Leu)
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3983+236T>C rs3810944
NM_000124.4(ERCC6):c.3984-3del

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