ClinVar Miner

List of variants reported as not provided for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val) rs141368249 0.00051
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln) rs138187021 0.00008
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_001605.3(AARS1):c.1878C>T (p.Gly626=) rs752673097 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) rs750625891 0.00003
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn) rs781528826 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373 0.00002
NM_003680.4(YARS1):c.1042+3A>C rs772446297 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His) rs769919130 0.00002
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288 0.00001
NM_001303256.3(MORC2):c.1298C>G (p.Ala433Gly) rs1370510062 0.00001
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_001605.3(AARS1):c.726G>A (p.Met242Ile) rs780360628 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln) rs1282857383 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_007289.4(MME):c.1511A>T (p.Glu504Val) rs201239248 0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) rs767928746 0.00001
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser) rs924785682 0.00001
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp) rs552937585 0.00001
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) rs769687105 0.00001
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) rs200802048 0.00001
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu) rs910994587 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_025137.4(SPG11):c.2612dup (p.Ser871fs) rs750101275 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
GRCh37/hg19 17p12(chr17:15229779-15265326)x3
GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val) rs1836186573
NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter) rs961918637
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr) rs797044847
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr) rs281865135
NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser) rs281865135
NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg) rs797044848
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001358263.1(HK1):c.-290G>C rs797044964
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr) rs63749871
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.1736G>A (p.Arg579His) rs281865063
NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile) rs281865064
NM_001370298.3(FGD4):c.2173-2A>G rs281865065
NM_001376.5(DYNC1H1):c.11989C>T (p.Arg3997Trp) rs1399236395
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile) rs750566844
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001376.5(DYNC1H1):c.3504del (p.Phe1169fs) rs2141281091
NM_001376.5(DYNC1H1):c.5114T>C (p.Val1705Ala) rs2048178354
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys) rs879253881
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001540.5(HSPB1):c.172del (p.Leu58fs) rs768456339
NM_002047.2(GARS1):c.-45C>G rs903029869
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr) rs1554337369
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_004208.4(AIFM1):c.460G>A (p.Asp154Asn) rs999882329
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr) rs1856819839
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) rs60261494
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs) rs1954727878
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro) rs1553145023
NM_015271.5(TRIM2):c.1663C>T (p.Arg555Cys) rs2149528038
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.5(TRPV4):c.617G>A (p.Arg206His) rs373108373
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs) rs80338929
NM_024577.4(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala) rs2083030697
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter) rs2140971559
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln) rs879367729
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro) rs765644977
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg) rs1572366516
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.3(PRX):c.247del (p.Leu83fs) rs281865061

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