ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Baylor Genetics

Included ClinVar conditions (93):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
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_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
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_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_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 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_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_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 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_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_014874.4(MFN2):c.1253G>A (p.Arg418Gln) rs766998571 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_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_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_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_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_021076.4(NEFH):c.25G>C (p.Ala9Pro) rs2062994833
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg) rs773225085

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