ClinVar Miner

List of variants in gene ERCC6L2 reported as benign for not provided

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_020207.7(ERCC6L2):c.2637C>T (p.Asp879=) rs3088294 0.32463
NM_020207.7(ERCC6L2):c.-33A>G rs690528 0.25892
NM_020207.7(ERCC6L2):c.1742T>C (p.Val581Ala) rs2274654 0.17275
NM_020207.7(ERCC6L2):c.2858A>T (p.Asn953Ile) rs3780574 0.12513
NM_020207.7(ERCC6L2):c.4627G>A (p.Ala1543Thr) rs10512243 0.08835
NM_020207.7(ERCC6L2):c.-15C>T rs56108623 0.08431
NM_020207.7(ERCC6L2):c.2236C>G (p.Leu746Val) rs4742801 0.02803
NM_020207.7(ERCC6L2):c.4403T>C (p.Met1468Thr) rs3739756 0.02732
NM_020207.7(ERCC6L2):c.471+16A>T rs117850642 0.01443
NM_020207.7(ERCC6L2):c.3593C>A (p.Pro1198His) rs45604033 0.01433
NM_020207.7(ERCC6L2):c.2811A>G (p.Val937=) rs41281212 0.01274
NM_020207.7(ERCC6L2):c.3193A>G (p.Ile1065Val) rs113902031 0.00861
NM_020207.7(ERCC6L2):c.1252C>A (p.Pro418Thr) rs59765732 0.00832
NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu) rs149922601 0.00545
NM_020207.7(ERCC6L2):c.407G>A (p.Gly136Glu) rs61740729 0.00454
NM_020207.7(ERCC6L2):c.21G>C (p.Gln7His) rs139286981 0.00453
NM_020207.7(ERCC6L2):c.4294A>G (p.Asn1432Asp) rs34949533 0.00424
NM_020207.7(ERCC6L2):c.375C>G (p.Asp125Glu) rs61746533 0.00306
NM_020207.7(ERCC6L2):c.-8C>G rs78293324 0.00272
NM_020207.7(ERCC6L2):c.4601T>G (p.Phe1534Cys) rs36002949 0.00258
NM_020207.7(ERCC6L2):c.1140G>C (p.Leu380Phe) rs150328847 0.00186
NM_020207.7(ERCC6L2):c.2486C>T (p.Thr829Ile) rs188610453 0.00100
NM_020207.7(ERCC6L2):c.1095T>C (p.Ser365=) rs147782697 0.00091
NM_020207.7(ERCC6L2):c.951-18C>G rs180960874 0.00091
NM_020207.7(ERCC6L2):c.3480T>C (p.Val1160=) rs150957564 0.00078
NM_020207.7(ERCC6L2):c.1413+20T>C rs190929590 0.00072
NM_020207.7(ERCC6L2):c.2101-7A>G rs556488891 0.00066
NM_020207.7(ERCC6L2):c.1413+18C>T rs571684635 0.00034
NM_020207.7(ERCC6L2):c.3416G>A (p.Arg1139Gln) rs370115465 0.00031
NM_020207.7(ERCC6L2):c.-12C>A rs201393222 0.00029
NM_020207.7(ERCC6L2):c.-13T>A rs202222262 0.00028
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu) rs146075543 0.00027
NM_020207.7(ERCC6L2):c.789-4A>G rs367808564 0.00022
NM_020207.7(ERCC6L2):c.471+11A>G rs776058239 0.00014
NM_020207.7(ERCC6L2):c.1614C>T (p.Asp538=) rs143996230 0.00009
NM_020207.7(ERCC6L2):c.1380G>A (p.Ala460=) rs201406110 0.00006
NM_020207.7(ERCC6L2):c.3918A>G (p.Pro1306=) rs757319250 0.00004
NM_020207.7(ERCC6L2):c.1320A>G (p.Thr440=) rs769325112 0.00001
NM_020207.7(ERCC6L2):c.1637C>T (p.Ala546Val) rs538392483 0.00001
NM_020207.7(ERCC6L2):c.-13_-12delinsAA rs2132482716
NM_020207.7(ERCC6L2):c.-1G>T
NM_020207.7(ERCC6L2):c.1159-11del
NM_020207.7(ERCC6L2):c.3552G>T (p.Pro1184=) rs12683634
NM_020207.7(ERCC6L2):c.472-7dup
NM_020207.7(ERCC6L2):c.789-13dup
NM_020207.7(ERCC6L2):c.8C>A (p.Pro3Gln) rs151308487
NM_020207.7(ERCC6L2):c.950+25dup

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