ClinVar Miner

List of variants reported as uncertain significance for Huntington disease and related disorders by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln) rs371369186 0.00032
NM_000146.4(FTL):c.-177C>T rs988614907 0.00012
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr) rs774676518 0.00011
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg) rs763608502 0.00010
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu) rs146902739 0.00009
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu) rs200253730 0.00009
NM_000146.4(FTL):c.155T>G (p.Phe52Cys) rs543242420 0.00006
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu) rs368002284 0.00006
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser) rs143474105 0.00005
NM_001386393.1(PANK2):c.-21G>A rs780551883 0.00004
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu) rs1375502090 0.00004
NC_000019.10:g.48965277C>T rs960442161 0.00003
NM_000146.4(FTL):c.375+4C>T rs369864128 0.00003
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys) rs528889529 0.00003
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg) rs971003044 0.00003
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile) rs530609127 0.00003
NM_000146.4(FTL):c.-46C>A rs768457741 0.00002
NM_000146.4(FTL):c.466G>A (p.Gly156Ser) rs151265703 0.00002
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu) rs137852969 0.00002
NM_001386393.1(PANK2):c.466G>A (p.Val156Met) rs753145257 0.00002
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser) rs1452787032 0.00002
NM_000146.4(FTL):c.-134A>T rs1463766648 0.00001
NM_000146.4(FTL):c.-190C>T rs1379884083 0.00001
NM_000146.4(FTL):c.-92T>C rs886054563 0.00001
NM_000146.4(FTL):c.17G>A (p.Arg6His) rs1012743580 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000146.4(FTL):c.207G>A (p.Met69Ile) rs1131691701 0.00001
NM_000146.4(FTL):c.302T>C (p.Met101Thr) rs750964137 0.00001
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000146.4(FTL):c.375+5G>A rs768867643 0.00001
NM_000146.4(FTL):c.473C>T (p.Pro158Leu) rs374486686 0.00001
NM_000146.4(FTL):c.492G>T (p.Glu164Asp) rs770946603 0.00001
NM_001386393.1(PANK2):c.-20A>C rs748780222 0.00001
NM_001386393.1(PANK2):c.-32C>T rs1441505244 0.00001
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys) rs767222898 0.00001
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys) rs1421161193 0.00001
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile) rs1600571977 0.00001
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu) rs967346135 0.00001
NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser) rs745590703 0.00001
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln) rs911560228 0.00001
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter) rs944348405 0.00001
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly) rs775816922 0.00001
NM_001386393.1(PANK2):c.298+2dup rs1309365137 0.00001
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp) rs752138761 0.00001
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser) rs1214737069 0.00001
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg) rs975735144 0.00001
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu) rs774558831 0.00001
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg) rs1159023197 0.00001
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys) rs1427550015 0.00001
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser) rs1432572102 0.00001
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) rs1012947103 0.00001
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala) rs748901841 0.00001
NM_153638.4(PANK2):c.239C>T (p.Pro80Leu) rs752820848 0.00001
NM_153638.4(PANK2):c.245G>A (p.Arg82His) rs995058151 0.00001
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg) rs757651957 0.00001
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile) rs1427393180 0.00001
NC_000019.10:g.(?_48966261)_(48966755_?)del
NC_000019.10:g.48965263G>A rs1034875270
NC_000019.10:g.48965263G>C
NC_000019.10:g.48965270G>C
NC_000019.10:g.48965301dup
NC_000019.10:g.48965303C>T
NC_000019.10:g.48965305C>T
NC_000019.9:g.(?_49468350)_(49481434_?)del
NC_000020.10:g.(?_1959939)_(6760201_?)dup
NC_000020.10:g.(?_3869748)_(3893301_?)dup
NM_000146.4(FTL):c.-10C>T
NM_000146.4(FTL):c.-111C>T
NM_000146.4(FTL):c.-126C>A
NM_000146.4(FTL):c.-139C>T rs2122429898
NM_000146.4(FTL):c.-143G>A
NM_000146.4(FTL):c.-144A>T
NM_000146.4(FTL):c.-148G>C rs2038438657
NM_000146.4(FTL):c.-153G>A
NM_000146.4(FTL):c.-153G>T rs2122429855
NM_000146.4(FTL):c.-170T>C rs2122429714
NM_000146.4(FTL):c.-173C>G rs1053572388
NM_000146.4(FTL):c.-179G>A
NM_000146.4(FTL):c.-181G>A
NM_000146.4(FTL):c.-184C>G rs955876864
NM_000146.4(FTL):c.-186C>T
NM_000146.4(FTL):c.-189G>T rs970038885
NM_000146.4(FTL):c.-193C>G rs2038437773
NM_000146.4(FTL):c.-196G>C rs2038437702
NM_000146.4(FTL):c.-24T>C
NM_000146.4(FTL):c.-51dup rs2122430255
NM_000146.4(FTL):c.-56G>T
NM_000146.4(FTL):c.-95C>A
NM_000146.4(FTL):c.102G>A (p.Leu34=)
NM_000146.4(FTL):c.113T>C (p.Phe38Ser) rs2038445005
NM_000146.4(FTL):c.124G>A (p.Asp42Asn) rs11553257
NM_000146.4(FTL):c.12G>C (p.Gln4His) rs753168179
NM_000146.4(FTL):c.139G>C (p.Gly47Arg) rs930186818
NM_000146.4(FTL):c.139G>T (p.Gly47Cys) rs930186818
NM_000146.4(FTL):c.178C>T (p.Arg60Cys) rs2038446533
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) rs11553225
NM_000146.4(FTL):c.194G>A (p.Arg65His) rs1555797038
NM_000146.4(FTL):c.218G>T (p.Arg73Leu) rs2122432219
NM_000146.4(FTL):c.229G>A (p.Ala77Thr)
NM_000146.4(FTL):c.247A>G (p.Lys83Glu) rs770196454
NM_000146.4(FTL):c.249+3A>G rs2038447850
NM_000146.4(FTL):c.249+6T>C
NM_000146.4(FTL):c.253C>T (p.Pro85Ser)
NM_000146.4(FTL):c.256G>C (p.Ala86Pro) rs773293832
NM_000146.4(FTL):c.261A>C (p.Glu87Asp) rs762786833
NM_000146.4(FTL):c.263A>G (p.Asp88Gly) rs2122433970
NM_000146.4(FTL):c.271G>T (p.Gly91Cys)
NM_000146.4(FTL):c.311A>G (p.Glu104Gly) rs2038454487
NM_000146.4(FTL):c.375T>C (p.His125=)
NM_000146.4(FTL):c.376C>G (p.Leu126Val) rs775308103
NM_000146.4(FTL):c.379T>C (p.Cys127Arg) rs2122435637
NM_000146.4(FTL):c.391G>A (p.Glu131Lys)
NM_000146.4(FTL):c.488G>A (p.Gly163Asp)
NM_000146.4(FTL):c.502G>T (p.Glu168Ter) rs768204975
NM_000146.4(FTL):c.515_516del (p.Leu172fs)
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) rs1422409524
NM_000146.4(FTL):c.71A>T (p.Tyr24Phe)
NM_001386393.1(PANK2):c.-11G>A
NM_001386393.1(PANK2):c.-22G>C
NM_001386393.1(PANK2):c.-29C>G
NM_001386393.1(PANK2):c.-3A>C
NM_001386393.1(PANK2):c.-5C>T rs746763863
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe) rs547164263
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly) rs1568575238
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr) rs2090571848
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu) rs1183095944
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu) rs138402319
NM_001386393.1(PANK2):c.1333-29_1333-8del
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr) rs886056652
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly) rs1416234460
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr) rs1568550594
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala) rs767712182
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys) rs755932521
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter) rs2146804492
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala) rs1380924374
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val) rs1380924374
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)
NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly) rs944348405
NM_001386393.1(PANK2):c.298+3_298+6del
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu) rs762879569
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser) rs2146859332
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val) rs2146859343
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly) rs2090413830
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)
NM_001386393.1(PANK2):c.40A>G (p.Met14Val) rs1368727421
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup) rs1568569482
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg) rs2146859529
NM_001386393.1(PANK2):c.431C>T (p.Ser144Phe)
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys) rs778263915
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)
NM_001386393.1(PANK2):c.503G>A (p.Arg168His)
NM_001386393.1(PANK2):c.519C>A (p.His173Gln) rs2090416889
NM_001386393.1(PANK2):c.526C>G (p.Arg176Gly)
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val) rs772205776
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp) rs975841680
NM_001386393.1(PANK2):c.651+3A>C rs1131691472
NM_001386393.1(PANK2):c.651+3A>G rs1131691472
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys) rs2146866714
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu) rs2146804825
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val) rs2090454168
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu) rs2146866985
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys) rs1568572918
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala) rs777624606
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser) rs1568572979
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) rs149907912
NM_001386393.1(PANK2):c.78C>A (p.His26Gln) rs2090076533
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu) rs2090457090
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn) rs2146867465
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu) rs1011938873
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His) rs1183615976
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys) rs758080048
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val) rs1268207892
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys) rs2146872412
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg) rs2146872437
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp) rs1031848408
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn) rs1426406978
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)
NM_153638.4(PANK2):c.126del (p.Arg44fs) rs1600474748
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala) rs2146803538
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala) rs2146803693
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu) rs757651957
NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)
NM_153638.4(PANK2):c.283C>T (p.Leu95Phe) rs558404718
NM_153638.4(PANK2):c.31G>A (p.Val11Ile) rs886044063
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe) rs1568549056
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser) rs1211425299

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