ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Baylor Genetics

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.1393-16C>G rs747761762 0.02500
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705 0.00048
NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522 0.00048
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_004373.4(COX6A1):c.160A>G (p.Met54Val) rs61739965 0.00046
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249 0.00032
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00022
NM_181882.3(PRX):c.500G>C (p.Arg167Pro) rs757322355 0.00019
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_004990.4(MARS1):c.1369-7A>C rs377050640 0.00016
NM_002437.5(MPV17):c.461+2T>C rs138199394 0.00015
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00012
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_181882.3(PRX):c.718C>T (p.Arg240Trp) rs199863083 0.00011
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln) rs763294661 0.00010
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922 0.00009
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp) rs144305922 0.00008
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_006096.4(NDRG1):c.537+18C>T rs779638529 0.00006
NM_021629.4(GNB4):c.204-4C>G rs377746889 0.00006
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr) rs1386270581 0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_181882.3(PRX):c.4317C>T (p.Ser1439=) rs372280596 0.00006
NM_002972.4(SBF1):c.4834G>A (p.Val1612Met) rs370715026 0.00005
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_002972.4(SBF1):c.1696G>T (p.Val566Leu) rs374194474 0.00004
NM_005548.3(KARS1):c.382G>A (p.Val128Met) rs374126791 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_021076.4(NEFH):c.2327C>G (p.Ser776Cys) rs201520640 0.00004
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173 0.00003
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002972.4(SBF1):c.2763A>G (p.Ala921=) rs754332334 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn) rs758614032 0.00003
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_004990.4(MARS1):c.2447G>A (p.Arg816His) rs150482634 0.00002
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302 0.00002
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp) rs752593001 0.00002
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_001303256.3(MORC2):c.1994C>G (p.Ser665Cys) rs1402143255 0.00001
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly) rs768569356 0.00001
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu) rs749060708 0.00001
NM_001376.5(DYNC1H1):c.12514-5A>G rs774476953 0.00001
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala) rs1001125376 0.00001
NM_001605.3(AARS1):c.1514C>T (p.Thr505Met) rs755492122 0.00001
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg) rs1224948634 0.00001
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983 0.00001
NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser) rs746910953 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_002437.5(MPV17):c.370C>T (p.Gln124Ter) rs863224074 0.00001
NM_002437.5(MPV17):c.375+2T>C rs1054997754 0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) rs763400903 0.00001
NM_002437.5(MPV17):c.71-1G>T rs751134093 0.00001
NM_003680.4(YARS1):c.1199G>A (p.Arg400Gln) rs746892773 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln) rs766998571 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_015271.5(TRIM2):c.818A>G (p.Gln273Arg) rs1045971920 0.00001
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter) rs201369986 0.00001
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe) rs777908204 0.00001
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser) rs762546636 0.00001
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val) rs746542104 0.00001
NM_181882.3(PRX):c.1184C>T (p.Thr395Ile) rs1273087776 0.00001
GRCh37/hg19 17p12(chr17:14063251-15449627)
GRCh37/hg19 17p12(chr17:14104012-15422557)
GRCh37/hg19 17p12(chr17:14105874-15611546)
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter) rs2092543877
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu) rs760150310
NM_000188.3(HK1):c.1871dup (p.Ala625fs) rs754451671
NM_000399.5(EGR2):c.1294T>A (p.Ser432Thr)
NM_000530.8(MPZ):c.*4T>G rs1670223090
NM_000530.8(MPZ):c.234G>A (p.Ser78=) rs368149365
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro) rs1653241392
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile) rs1602510214
NM_001365088.1(SLC12A6):c.316+3A>G
NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr) rs2048038458
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr) rs763513667
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn) rs1554338262
NM_002180.3(IGHMBP2):c.1537+5G>A rs1859419489
NM_002180.3(IGHMBP2):c.449+1G>A rs797044802
NM_002437.5(MPV17):c.101C>G (p.Ser34Ter)
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002437.5(MPV17):c.139del (p.Gln47fs) rs2148216335
NM_002437.5(MPV17):c.22C>T (p.Gln8Ter) rs1679897519
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.280-2del
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) rs267607257
NM_002437.5(MPV17):c.328_332del (p.Gly109_Ala110insTer)
NM_002437.5(MPV17):c.354dup (p.Asn119fs)
NM_002437.5(MPV17):c.375+1G>A
NM_002437.5(MPV17):c.375+1G>T
NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.408T>A (p.Tyr136Ter)
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002437.5(MPV17):c.461+1G>T
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002437.5(MPV17):c.462-2A>C
NM_002972.4(SBF1):c.161G>A (p.Trp54Ter) rs1556436855
NM_002972.4(SBF1):c.2938G>A (p.Gly980Arg) rs1180199698
NM_003172.4(SURF1):c.378T>G (p.Phe126Leu) rs1836501449
NM_003680.4(YARS1):c.130A>G (p.Thr44Ala) rs1638571973
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser) rs886043551
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_007126.5(VCP):c.961G>A (p.Glu321Lys)
NM_014845.6(FIG4):c.394A>G (p.Met132Val)
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys) rs2100849130
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.515A>G (p.Gln172Arg) rs1638957491
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu) rs1639045962
NM_015726.4(DCAF8):c.1727C>T (p.Ser576Phe)
NM_016156.6(MTMR2):c.1593+1G>A rs1590970875
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn) rs1644549269
NM_021076.4(NEFH):c.25G>C (p.Ala9Pro) rs2062994833
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter) rs147895061
NM_024577.4(SH3TC2):c.3213C>T (p.Ile1071=) rs1753764451
NM_024577.4(SH3TC2):c.3804C>T (p.Ser1268=) rs1434453673
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter) rs1754425628
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg) rs1754317705
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg) rs773225085
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr) rs1228676321
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys) rs1334739235
NM_181882.3(PRX):c.2719C>T (p.Gln907Ter) rs2079426412
NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln) rs2079403438

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