ClinVar Miner

List of variants reported by Claritas Genomics

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ClinVar version:
Total variants: 130
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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_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
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_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His) rs201111610 0.00092
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
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_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) rs142289138 0.00062
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr) rs145535698 0.00024
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu) rs372193709 0.00009
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064 0.00006
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln) rs746283445 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139 0.00005
NM_002637.4(PHKA1):c.1272T>A (p.Asp424Glu) rs1060499719 0.00005
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln) rs730880596 0.00004
NM_001110556.2(FLNA):c.2023-6C>T rs372021340 0.00004
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_001365999.1(SZT2):c.9893G>A (p.Arg3298His) rs1060499723 0.00002
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312 0.00001
NM_001371986.1(UNC80):c.400G>A (p.Gly134Ser) rs764575721 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_024570.4(RNASEH2B):c.136+8C>T rs891972892 0.00001
NM_181882.3(PRX):c.2335G>A (p.Ala779Thr) rs369505684 0.00001
NM_000082.4(ERCC8):c.141del (p.Asn47fs) rs786205176
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) rs786205166
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) rs786205167
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.1999del (p.Thr667fs) rs786205169
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.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter) rs786205173
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) rs786205175
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000380.4(XPA):c.545_546insTA (p.Leu182fs) rs786205205
NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) rs786205180
NM_001110556.2(FLNA):c.137del (p.Gln46fs) rs786205181
NM_001110556.2(FLNA):c.1430-1G>T rs786205177
NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.2(FLNA):c.1829-2A>G rs786205183
NM_001110556.2(FLNA):c.2565+1G>C rs786205186
NM_001110556.2(FLNA):c.3285C>A (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) rs786205188
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) rs786205189
NM_001110556.2(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) rs786205191
NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) rs398123620
NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) rs786205194
NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) rs786205196
NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) rs786205198
NM_001110556.2(FLNA):c.5021_5022del (p.Val1674fs) rs786205199
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) rs137853310
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.623-20_623-12del rs786205200
NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) rs786205201
NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) rs786205178
NM_001110556.2(FLNA):c.732dup (p.Glu245fs) rs786205203
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter) rs398122812
NM_001110556.2(FLNA):c.987+1G>A rs786205204
NM_001134407.3(GRIN2A):c.1778-3C>T rs1060499722
NM_001370658.1(BTD):c.164C>A (p.Ala55Asp) rs1060499720
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter) rs767569346
NM_004628.5(XPC):c.2262del (p.Asn754fs) rs786205206
NM_015634.4(KIFBP):c.167_187dup (p.Asp56_Glu62dup) rs767103634
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly) rs144234059
NM_021971.4(GMPPB):c.529A>G (p.Ile177Val) rs1060499721

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