ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease dominant intermediate F by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_021629.4(GNB4):c.-42-410T>A rs6443648 0.51577
NM_021629.4(GNB4):c.117T>C (p.Ser39=) rs1362650 0.46787
NM_021629.4(GNB4):c.48T>C (p.Asn16=) rs1078749 0.03507
NM_021629.4(GNB4):c.958G>A (p.Val320Ile) rs61750380 0.00362
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652 0.00155
NM_021629.4(GNB4):c.668C>T (p.Thr223Met) rs144385061 0.00061
NM_021629.4(GNB4):c.243T>C (p.Ile81=) rs200696108 0.00037
NM_021629.4(GNB4):c.203+13C>G rs371162080 0.00036
NM_021629.4(GNB4):c.916+10_916+11insG rs537195612 0.00034
NM_021629.4(GNB4):c.853T>G (p.Leu285Val) rs554623238 0.00023
NM_021629.4(GNB4):c.97-14G>A rs370924983 0.00022
NM_021629.4(GNB4):c.375C>T (p.Asn125=) rs772099911 0.00011
NM_021629.4(GNB4):c.57+18C>T rs372082625 0.00011
NM_021629.4(GNB4):c.916+9A>G rs376068792 0.00011
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln) rs138187021 0.00008
NM_021629.4(GNB4):c.885T>C (p.Asn295=) rs550870195 0.00008
NM_021629.4(GNB4):c.204-4C>G rs377746889 0.00006
NM_021629.4(GNB4):c.430+7T>G rs758969360 0.00006
NM_021629.4(GNB4):c.6C>T (p.Ser2=) rs369560167 0.00006
NM_021629.4(GNB4):c.598G>A (p.Val200Ile) rs775578986 0.00005
NM_021629.4(GNB4):c.700-18T>G rs780957835 0.00005
NM_021629.4(GNB4):c.910C>T (p.Arg304Cys) rs201776673 0.00005
NM_021629.4(GNB4):c.195C>T (p.Tyr65=) rs768164095 0.00004
NM_021629.4(GNB4):c.259A>G (p.Thr87Ala) rs780046027 0.00004
NM_021629.4(GNB4):c.367A>G (p.Ile123Val) rs760551965 0.00004
NM_021629.4(GNB4):c.574T>G (p.Leu192Val) rs556759178 0.00004
NM_021629.4(GNB4):c.911G>A (p.Arg304His) rs771664047 0.00004
NM_021629.4(GNB4):c.917-19T>C rs370399077 0.00004
NM_021629.4(GNB4):c.125G>A (p.Arg42Gln) rs749082388 0.00003
NM_021629.4(GNB4):c.34G>C (p.Glu12Gln) rs142308226 0.00003
NM_021629.4(GNB4):c.513C>T (p.Ile171=) rs367709368 0.00003
NM_021629.4(GNB4):c.57+19A>G rs771167187 0.00003
NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr) rs760894139 0.00003
NM_021629.4(GNB4):c.747T>G (p.Thr249=) rs774571998 0.00003
NM_021629.4(GNB4):c.86C>T (p.Thr29Met) rs762114369 0.00003
NM_021629.4(GNB4):c.137G>A (p.Arg46Gln) rs755914601 0.00002
NM_021629.4(GNB4):c.268-16G>C rs201894015 0.00002
NM_021629.4(GNB4):c.363C>T (p.Cys121=) rs1316185536 0.00002
NM_021629.4(GNB4):c.432G>A (p.Gly144=) rs759607911 0.00002
NM_021629.4(GNB4):c.723C>T (p.Phe241=) rs752815541 0.00002
NM_021629.4(GNB4):c.751C>T (p.Arg251Trp) rs756270613 0.00002
NM_021629.4(GNB4):c.759T>G (p.Phe253Leu) rs368061934 0.00002
NM_021629.4(GNB4):c.84A>C (p.Ala28=) rs770125763 0.00002
NM_021629.4(GNB4):c.896C>T (p.Thr299Met) rs202181846 0.00002
NM_021629.4(GNB4):c.204-2A>G rs1410643364 0.00001
NM_021629.4(GNB4):c.204-7_204-6insT rs1471080508 0.00001
NM_021629.4(GNB4):c.27A>G (p.Gln9=) rs376598495 0.00001
NM_021629.4(GNB4):c.291C>T (p.Ser97=) rs370235365 0.00001
NM_021629.4(GNB4):c.43C>T (p.Arg15Trp) rs765056278 0.00001
NM_021629.4(GNB4):c.592A>T (p.Thr198Ser) rs776836938 0.00001
NM_021629.4(GNB4):c.594T>C (p.Thr198=) rs768745441 0.00001
NM_021629.4(GNB4):c.630A>T (p.Leu210Phe) rs779372670 0.00001
NM_021629.4(GNB4):c.689A>G (p.Asn230Ser) rs1459911526 0.00001
NM_021629.4(GNB4):c.700-3T>C rs199620294 0.00001
NM_021629.4(GNB4):c.709A>C (p.Asn237His) rs758131126 0.00001
NM_021629.4(GNB4):c.714A>G (p.Gly238=) rs1433615086 0.00001
NM_021629.4(GNB4):c.766C>T (p.Arg256Cys) rs971032854 0.00001
NM_021629.4(GNB4):c.797A>G (p.His266Arg) rs375559586 0.00001
NM_021629.4(GNB4):c.799G>A (p.Asp267Asn) rs752762550 0.00001
NM_021629.4(GNB4):c.7G>A (p.Glu3Lys) rs955229785 0.00001
NM_021629.4(GNB4):c.803A>G (p.Asn268Ser) rs200411099 0.00001
NM_021629.4(GNB4):c.87G>A (p.Thr29=) rs1241877103 0.00001
NM_021629.4(GNB4):c.897G>A (p.Thr299=) rs1431464178 0.00001
NM_021629.4(GNB4):c.898C>G (p.Leu300Val) rs1390536220 0.00001
NM_021629.4(GNB4):c.903A>T (p.Lys301Asn) rs1167931862 0.00001
NM_021629.4(GNB4):c.915A>G (p.Ala305=) rs1281047589 0.00001
NM_021629.4(GNB4):c.916+10T>C rs371633908 0.00001
NM_021629.4(GNB4):c.918T>G (p.Gly306=) rs1714292732 0.00001
NM_021629.4(GNB4):c.927T>A (p.Ala309=) rs769787081 0.00001
NM_021629.4(GNB4):c.941G>A (p.Arg314His) rs747095396 0.00001
NM_021629.4(GNB4):c.95A>G (p.Gln32Arg) rs1440906446 0.00001
NM_021629.4(GNB4):c.96+9T>C rs1222924595 0.00001
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NC_000003.11:g.(?_179119001)_(179138735_?)dup
NC_000003.11:g.(?_179119001)_(179143988_?)dup
NC_000003.12:g.(?_179401203)_(179426210_?)dup
NM_021629.4(GNB4):c.1020T>C (p.Asn340=)
NM_021629.4(GNB4):c.102del (p.Ser35fs) rs2108595883
NM_021629.4(GNB4):c.107A>T (p.Asn36Ile) rs1577031106
NM_021629.4(GNB4):c.135G>A (p.Met45Ile)
NM_021629.4(GNB4):c.136C>T (p.Arg46Ter) rs1252790676
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) rs387907340
NM_021629.4(GNB4):c.169A>G (p.Lys57Glu) rs1714910248
NM_021629.4(GNB4):c.16C>G (p.Gln6Glu) rs1163990709
NM_021629.4(GNB4):c.181A>T (p.Met61Leu)
NM_021629.4(GNB4):c.185A>C (p.His62Pro) rs879741255
NM_021629.4(GNB4):c.196G>A (p.Asp66Asn) rs864622729
NM_021629.4(GNB4):c.200C>T (p.Ser67Phe)
NM_021629.4(GNB4):c.201C>T (p.Ser67=)
NM_021629.4(GNB4):c.203+10T>G
NM_021629.4(GNB4):c.204-3T>C
NM_021629.4(GNB4):c.204-4C>T rs377746889
NM_021629.4(GNB4):c.204-6C>G rs752116156
NM_021629.4(GNB4):c.227A>G (p.Asp76Gly) rs1714805406
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.4(GNB4):c.254A>G (p.Tyr85Cys)
NM_021629.4(GNB4):c.265A>C (p.Lys89Gln) rs387907341
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) rs387907341
NM_021629.4(GNB4):c.267+20C>A
NM_021629.4(GNB4):c.268-15_268-11del
NM_021629.4(GNB4):c.268-19T>C
NM_021629.4(GNB4):c.268-4A>G rs566002899
NM_021629.4(GNB4):c.296G>A (p.Trp99Ter)
NM_021629.4(GNB4):c.311C>T (p.Ala104Val) rs761510333
NM_021629.4(GNB4):c.332A>T (p.Tyr111Phe)
NM_021629.4(GNB4):c.334G>A (p.Val112Ile) rs1186398900
NM_021629.4(GNB4):c.339C>T (p.Ala113=)
NM_021629.4(GNB4):c.356A>G (p.Asn119Ser) rs2108591079
NM_021629.4(GNB4):c.35A>G (p.Glu12Gly)
NM_021629.4(GNB4):c.368T>C (p.Ile123Thr)
NM_021629.4(GNB4):c.380dup (p.Thr128fs)
NM_021629.4(GNB4):c.388G>C (p.Glu130Gln)
NM_021629.4(GNB4):c.399G>C (p.Val133=) rs2108591002
NM_021629.4(GNB4):c.402A>G (p.Arg134=)
NM_021629.4(GNB4):c.403G>A (p.Val135Ile)
NM_021629.4(GNB4):c.409C>A (p.Arg137=)
NM_021629.4(GNB4):c.429A>G (p.Thr143=) rs1577029046
NM_021629.4(GNB4):c.430+13A>G
NM_021629.4(GNB4):c.431-11_431-10del rs778339130
NM_021629.4(GNB4):c.431-13C>T
NM_021629.4(GNB4):c.431-16A>C
NM_021629.4(GNB4):c.431-5T>C
NM_021629.4(GNB4):c.442T>A (p.Cys148Ser) rs1429474978
NM_021629.4(GNB4):c.449G>A (p.Arg150His)
NM_021629.4(GNB4):c.45G>T (p.Arg15=) rs1038277192
NM_021629.4(GNB4):c.471T>G (p.Ile157Met)
NM_021629.4(GNB4):c.482C>A (p.Ser161Ter)
NM_021629.4(GNB4):c.491C>A (p.Thr164Lys) rs769949519
NM_021629.4(GNB4):c.504A>G (p.Leu168=)
NM_021629.4(GNB4):c.521C>T (p.Ala174Val) rs1714712618
NM_021629.4(GNB4):c.530C>A (p.Thr177Asn)
NM_021629.4(GNB4):c.540C>G (p.Phe180Leu)
NM_021629.4(GNB4):c.543T>C (p.Thr181=)
NM_021629.4(GNB4):c.560T>C (p.Val187Ala)
NM_021629.4(GNB4):c.57+7C>A
NM_021629.4(GNB4):c.572_575del (p.Leu190_Ser191insTer)
NM_021629.4(GNB4):c.58-14dup rs112500963
NM_021629.4(GNB4):c.58-18C>T
NM_021629.4(GNB4):c.584A>G (p.Asp195Gly)
NM_021629.4(GNB4):c.58G>C (p.Asp20His)
NM_021629.4(GNB4):c.61G>T (p.Ala21Ser)
NM_021629.4(GNB4):c.624C>T (p.Ser208=)
NM_021629.4(GNB4):c.636T>C (p.Asp212=)
NM_021629.4(GNB4):c.640C>T (p.Arg214Ter) rs748747265
NM_021629.4(GNB4):c.641G>A (p.Arg214Gln)
NM_021629.4(GNB4):c.645T>C (p.Asp215=) rs755596977
NM_021629.4(GNB4):c.645T>G (p.Asp215Glu) rs755596977
NM_021629.4(GNB4):c.65G>A (p.Arg22Gln)
NM_021629.4(GNB4):c.669G>A (p.Thr223=)
NM_021629.4(GNB4):c.681A>G (p.Ser227=) rs2108589151
NM_021629.4(GNB4):c.697A>G (p.Ser233Gly) rs538233963
NM_021629.4(GNB4):c.699+10T>C rs1433602623
NM_021629.4(GNB4):c.699+12G>A
NM_021629.4(GNB4):c.699+14A>G rs2108589120
NM_021629.4(GNB4):c.700-10T>G rs2108580143
NM_021629.4(GNB4):c.700-18del rs1456809980
NM_021629.4(GNB4):c.700-9C>G rs2108580139
NM_021629.4(GNB4):c.714A>T (p.Gly238=) rs1433615086
NM_021629.4(GNB4):c.724G>A (p.Ala242Thr)
NM_021629.4(GNB4):c.733T>A (p.Ser245Thr) rs1714435843
NM_021629.4(GNB4):c.73T>G (p.Cys25Gly)
NM_021629.4(GNB4):c.744C>T (p.Ala248=) rs1207477015
NM_021629.4(GNB4):c.745A>C (p.Thr249Pro)
NM_021629.4(GNB4):c.747T>C (p.Thr249=)
NM_021629.4(GNB4):c.749G>A (p.Cys250Tyr)
NM_021629.4(GNB4):c.74G>A (p.Cys25Tyr)
NM_021629.4(GNB4):c.750C>T (p.Cys250=)
NM_021629.4(GNB4):c.752G>A (p.Arg251Gln)
NM_021629.4(GNB4):c.756C>G (p.Leu252=) rs371587505
NM_021629.4(GNB4):c.756C>T (p.Leu252=)
NM_021629.4(GNB4):c.771A>G (p.Ala257=) rs878855069
NM_021629.4(GNB4):c.783A>G (p.Leu261=)
NM_021629.4(GNB4):c.783ATT[1] (p.Leu263del) rs771274313
NM_021629.4(GNB4):c.784T>C (p.Leu262=)
NM_021629.4(GNB4):c.784_785insC (p.Leu262fs)
NM_021629.4(GNB4):c.787T>C (p.Leu263=) rs778880529
NM_021629.4(GNB4):c.789G>A (p.Leu263=)
NM_021629.4(GNB4):c.800A>G (p.Asp267Gly) rs2108579874
NM_021629.4(GNB4):c.826G>A (p.Val276Ile) rs139774004
NM_021629.4(GNB4):c.834C>T (p.Phe278=)
NM_021629.4(GNB4):c.839A>G (p.Lys280Arg)
NM_021629.4(GNB4):c.83C>G (p.Ala28Gly) rs1023173121
NM_021629.4(GNB4):c.847C>T (p.Arg283Cys)
NM_021629.4(GNB4):c.848G>A (p.Arg283His)
NM_021629.4(GNB4):c.848G>C (p.Arg283Pro) rs186593898
NM_021629.4(GNB4):c.863G>C (p.Gly288Ala)
NM_021629.4(GNB4):c.867C>T (p.Tyr289=)
NM_021629.4(GNB4):c.903A>G (p.Lys301=) rs1167931862
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala) rs1020090528
NM_021629.4(GNB4):c.916+16C>G
NM_021629.4(GNB4):c.916+17A>C rs1714426501
NM_021629.4(GNB4):c.916+20T>G
NM_021629.4(GNB4):c.916+3T>C rs2108579668
NM_021629.4(GNB4):c.917-10T>C rs749107679
NM_021629.4(GNB4):c.917-12dup rs764075662
NM_021629.4(GNB4):c.917-15G>C
NM_021629.4(GNB4):c.917-15G>T rs2108575181
NM_021629.4(GNB4):c.917-20T>C
NM_021629.4(GNB4):c.917-49_917-7del rs2108575167
NM_021629.4(GNB4):c.917-4del rs764075662
NM_021629.4(GNB4):c.917-5T>C
NM_021629.4(GNB4):c.919G>T (p.Val307Phe)
NM_021629.4(GNB4):c.921C>T (p.Val307=) rs879100241
NM_021629.4(GNB4):c.923T>C (p.Leu308Pro) rs1168008697
NM_021629.4(GNB4):c.939_940del (p.Asn313fs) rs1560208074
NM_021629.4(GNB4):c.952T>C (p.Leu318=) rs1324179212
NM_021629.4(GNB4):c.957T>G (p.Gly319=)
NM_021629.4(GNB4):c.958G>T (p.Val320Leu)
NM_021629.4(GNB4):c.96+16T>C
NM_021629.4(GNB4):c.96+17C>A
NM_021629.4(GNB4):c.96+17_96+20del rs1388221736
NM_021629.4(GNB4):c.96+2T>C rs2108597364
NM_021629.4(GNB4):c.97-1_98del rs776641307
NM_021629.4(GNB4):c.981G>A (p.Val327=) rs2108575061

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