ClinVar Miner

List of variants reported for not specified by Claritas Genomics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1881T>A (p.Ala627=) rs2958057 1.00000
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000380.4(XPA):c.-4A>G rs1800975 0.70140
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
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.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_004628.5(XPC):c.46C>G (p.Leu16Val) rs1870134 0.01876
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) rs4647088 0.01289
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
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.150G>A (p.Val50=) rs80133923 0.00073
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064 0.00006
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_000124.4(ERCC6):c.2418C>G (p.Cys806Trp) rs375810438
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_001110556.2(FLNA):c.3285C>A (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) rs786205196
NM_001110556.2(FLNA):c.7756+11= rs7063300

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