ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Invitae

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 473
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_001005373.4(LRSAM1):c.1088+1G>C rs765641195 0.00014
NM_001005373.4(LRSAM1):c.1348-1G>A rs747659617 0.00009
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro) rs1246249632 0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu) rs764238525 0.00004
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln) rs768407445 0.00003
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys) rs748017885 0.00002
NM_014874.4(MFN2):c.809T>C (p.Met270Thr) rs771996573 0.00002
NM_170707.4(LMNA):c.142C>G (p.Arg48Gly) rs769977710 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000263.4(NAGLU):c.154G>A (p.Val52Met) rs794726880 0.00001
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn) rs2092909557 0.00001
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073 0.00001
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro) rs779199750 0.00001
NM_001122955.4(BSCL2):c.486+1G>A rs1011200048 0.00001
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala) rs766728475 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001605.3(AARS1):c.2177+1G>A rs766251338 0.00001
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362 0.00001
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_003680.4(YARS1):c.620G>A (p.Arg207Gln) rs371267865 0.00001
NM_006096.4(NDRG1):c.63+1G>A rs1320417829 0.00001
NM_014845.6(FIG4):c.1388+1G>A rs754338522 0.00001
NM_014845.6(FIG4):c.2460-2A>G rs1458183004 0.00001
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val) rs201165591 0.00001
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr) rs1569830013 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_016156.6(MTMR2):c.1187T>C (p.Leu396Pro) rs770852495 0.00001
NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys) rs868185064 0.00001
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207 0.00001
NM_024577.4(SH3TC2):c.279+1G>A rs1198337036 0.00001
NM_024577.4(SH3TC2):c.529+1G>A rs769410348 0.00001
NM_024577.4(SH3TC2):c.806-2A>G rs1041389207 0.00001
NM_030962.4(SBF2):c.3653-1G>A rs145183196 0.00001
NM_170707.4(LMNA):c.1163G>A (p.Arg388His) rs267607576 0.00001
NM_170707.4(LMNA):c.1304G>A (p.Arg435His) rs1263919141 0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys) rs62636506 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1698+1G>A rs1553266337 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_181882.3(PRX):c.3505C>T (p.Gln1169Ter) rs767591489 0.00001
NC_000001.10:g.(?_12052592)_(12052767_?)dup
NC_000001.10:g.(?_12052592)_(12057498_?)dup
NC_000001.10:g.(?_12052602)_(12057488_?)dup
NC_000001.10:g.(?_12057334)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)dup
NC_000001.10:g.(?_156100388)_(156100584_?)dup
NC_000001.10:g.(?_156100388)_(156107554_?)dup
NC_000001.10:g.(?_156104586)_(156108907_?)del
NC_000001.10:g.(?_156105681)_(156107037_?)del
NC_000001.11:g.(?_156134383)_(156134548_?)del
NC_000001.11:g.(?_156134393)_(156134538_?)del
NC_000001.11:g.(?_156137634)_(156139126_?)del
NC_000006.11:g.(?_110081433)_(110088118_?)dup
NC_000007.14:g.(?_76303782)_(76304193_?)del
NC_000008.10:g.(?_75272366)_(75272551_?)del
NC_000009.11:g.(?_130241728)_(130244069_?)del
NC_000009.11:g.(?_130248084)_(130254631_?)del
NC_000009.12:g.(?_127502764)_(127502909_?)del
NC_000011.10:g.(?_9780408)_(10042991_?)del
NC_000011.9:g.(?_68682281)_(68682501_?)del
NC_000011.9:g.(?_95568454)_(95598860_?)del
NC_000017.10:g.(?_40690337)_(40690793_?)dup
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe) rs2143075651
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) rs753454744
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala) rs771151036
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro) rs2092928624
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser) rs1347224658
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs) rs2143116788
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) rs1599253805
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu) rs1379877908
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp) rs746876753
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
NM_000263.4(NAGLU):c.531+1G>A rs1245939928
NM_000263.4(NAGLU):c.532-1G>A rs2143086378
NM_000263.4(NAGLU):c.532-1G>C rs2143086378
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly) rs104894601
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu) rs886042073
NM_000263.4(NAGLU):c.764+2T>C
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu) rs1209988199
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His) rs2143099180
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe) rs1305299665
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val) rs104894600
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser) rs1181487342
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1115T>C (p.Phe372Ser) rs2146014404
NM_001005361.3(DNM2):c.1463C>G (p.Thr488Arg) rs746903992
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys) rs2072577342
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys) rs879254086
NM_001005373.4(LRSAM1):c.1043+1G>A rs373571535
NM_001005373.4(LRSAM1):c.1043+1G>T
NM_001005373.4(LRSAM1):c.1043+2T>G rs746455518
NM_001005373.4(LRSAM1):c.1088+2T>G
NM_001005373.4(LRSAM1):c.1089-1G>C
NM_001005373.4(LRSAM1):c.1504-2A>G rs1064797013
NM_001005373.4(LRSAM1):c.175-2A>T rs1035054313
NM_001005373.4(LRSAM1):c.1978_1979dup (p.Pro661fs) rs1836370529
NM_001005373.4(LRSAM1):c.1996_2017del (p.Ala666fs)
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_001005373.4(LRSAM1):c.2026_2027del (p.Val676fs) rs2132128455
NM_001005373.4(LRSAM1):c.2033_2038del (p.Cys678_Glu680delinsTer)
NM_001005373.4(LRSAM1):c.2043_2044dup (p.Glu682fs) rs1554762671
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_001005373.4(LRSAM1):c.2092C>T (p.Gln698Ter)
NM_001005373.4(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser) rs1588144707
NM_001005373.4(LRSAM1):c.2131C>T (p.Gln711Ter)
NM_001005373.4(LRSAM1):c.252+1G>A rs1554753670
NM_001005373.4(LRSAM1):c.73-2A>T
NM_001005373.4(LRSAM1):c.849_1088+565del
NM_001005373.4(LRSAM1):c.903+1G>T rs1272943113
NM_001005373.4(LRSAM1):c.904-17_949del rs2132063794
NM_001005373.4(LRSAM1):c.904-2A>G rs1171946884
NM_001122955.4(BSCL2):c.1006-1G>A rs777430457
NM_001122955.4(BSCL2):c.1006-2A>C
NM_001122955.4(BSCL2):c.1154-1del rs1945285043
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala) rs1590881633
NM_001122955.4(BSCL2):c.487-1G>A
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) rs1602485728
NM_001303256.3(MORC2):c.1270A>G (p.Thr424Ala) rs2147256596
NM_001303256.3(MORC2):c.1271C>A (p.Thr424Lys)
NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val) rs2040679845
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser) rs1064796495
NM_001370298.3(FGD4):c.1404+2T>A rs1948478259
NM_001370298.3(FGD4):c.1602+1G>C rs2136763097
NM_001370298.3(FGD4):c.2244_2313+238delinsGGAGG rs1950619177
NM_001370298.3(FGD4):c.504-2A>C
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) rs2048519381
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro) rs1567019064
NM_001376.5(DYNC1H1):c.10574G>A (p.Arg3525His) rs2152592202
NM_001376.5(DYNC1H1):c.11423GCA[2] (p.Ser3810del)
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe) rs2047932647
NM_001376.5(DYNC1H1):c.1825A>G (p.Ile609Val)
NM_001376.5(DYNC1H1):c.2357G>A (p.Arg786His)
NM_001376.5(DYNC1H1):c.3015+17_3015+18delinsCT
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.4699C>T (p.Arg1567Trp) rs377013246
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.9721A>G (p.Lys3241Glu)
NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg)
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp) rs770272088
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln) rs863225022
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001605.3(AARS1):c.1071+1G>A rs2152160643
NM_001605.3(AARS1):c.1992+1G>A rs1960065852
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg) rs1597446183
NM_001605.3(AARS1):c.334-6_338del rs2152166762
NM_001605.3(AARS1):c.817-1G>A rs866662905
NM_001605.3(AARS1):c.962+1G>T
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys) rs1064795664
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser) rs1554338264
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg) rs2128134025
NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu)
NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly) rs1554338641
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys) rs1060502839
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) rs1301948344
NM_002180.3(IGHMBP2):c.1060+1G>T rs1366461184
NM_002180.3(IGHMBP2):c.1235+1G>T
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1236-1G>T rs1124336
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1632+1G>T
NM_002180.3(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His) rs1240319744
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
NM_002180.3(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.3(IGHMBP2):c.449+2T>A
NM_002180.3(IGHMBP2):c.449+2del
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.3(IGHMBP2):c.86+1G>T
NM_002180.3(IGHMBP2):c.905_912+85del
NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr) rs1576304176
NM_006096.4(NDRG1):c.326+1G>A rs1586446057
NM_006096.4(NDRG1):c.450+2_450+3del rs1856488064
NM_006096.4(NDRG1):c.537+1G>T
NM_006096.4(NDRG1):c.595-2A>T rs758718584
NM_006096.4(NDRG1):c.699-1G>A
NM_006096.4(NDRG1):c.699-2A>C
NM_006096.4(NDRG1):c.755+1G>A rs2130692394
NM_006096.4(NDRG1):c.808-2A>G rs112360093
NM_006096.4(NDRG1):c.855+2T>C
NM_006096.4(NDRG1):c.891+2T>C rs1586407193
NM_006096.4(NDRG1):c.99+1G>A rs2130785568
NM_006158.5(NEFL):c.1044+2T>G
NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys)
NM_006158.5(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn)
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_014845.6(FIG4):c.1040-1G>A
NM_014845.6(FIG4):c.1138-1G>A
NM_014845.6(FIG4):c.1271+1G>A
NM_014845.6(FIG4):c.1584-1G>T
NM_014845.6(FIG4):c.165+2T>C
NM_014845.6(FIG4):c.165+2T>G
NM_014845.6(FIG4):c.1749_1750+7del rs1777296419
NM_014845.6(FIG4):c.1890-2A>G rs1777909965
NM_014845.6(FIG4):c.1948+1G>A
NM_014845.6(FIG4):c.2376+1G>A
NM_014845.6(FIG4):c.447-2A>C rs866895236
NM_014845.6(FIG4):c.498-2A>G rs1554300952
NM_014845.6(FIG4):c.67-1G>A
NM_014845.6(FIG4):c.876+2T>G rs2128386656
NM_014874.4(MFN2):c.1067C>G (p.Thr356Ser)
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr) rs2100841033
NM_014874.4(MFN2):c.1083C>G (p.His361Gln) rs1639197832
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro) rs879254176
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.4(MFN2):c.1160+1G>A rs1553144086
NM_014874.4(MFN2):c.1287+1G>C rs1639299226
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp) rs2100802936
NM_014874.4(MFN2):c.1496-2A>G
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp) rs772701127
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro) rs375937289
NM_014874.4(MFN2):c.2170C>G (p.Leu724Val)
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr) rs1553146551
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys) rs1060501925
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly) rs1131691782
NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.262A>C (p.Ile88Leu) rs1569816194
NM_014874.4(MFN2):c.264C>G (p.Ile88Met) rs1553141680
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn)
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg)
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.395G>T (p.Cys132Phe)
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln) rs2100822581
NM_014874.4(MFN2):c.449G>T (p.Gly150Val) rs1060501918
NM_014874.4(MFN2):c.494A>C (p.His165Pro) rs863224970
NM_014874.4(MFN2):c.495T>A (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.495T>G (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.656A>G (p.Asp219Gly) rs1569842483
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu) rs1639045962
NM_014874.4(MFN2):c.669T>A (p.Phe223Leu) rs1440006845
NM_014874.4(MFN2):c.688G>A (p.Glu230Lys) rs2100831900
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) rs1569842714
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.4(MFN2):c.694A>C (p.Thr232Pro) rs1553143165
NM_014874.4(MFN2):c.700A>G (p.Met234Val) rs2100831955
NM_014874.4(MFN2):c.700A>T (p.Met234Leu)
NM_014874.4(MFN2):c.708+1G>A rs1639048523
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.711A>C (p.Glu237Asp)
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.720C>A (p.Phe240Leu) rs864622480
NM_014874.4(MFN2):c.731T>G (p.Val244Gly) rs1060501921
NM_014874.4(MFN2):c.742C>G (p.Leu248Val) rs1569843694
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys) rs794729198
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser)
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu) rs1639171700
NM_014874.4(MFN2):c.970+1G>T rs1553143890
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs) rs751292488
NM_016156.6(MTMR2):c.804+1G>C rs1565351898
NM_016156.6(MTMR2):c.804+2T>G rs1555061026
NM_016156.6(MTMR2):c.993+1G>A rs1555060614
NM_018972.4(GDAP1):c.117+1G>A rs1808804404
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser) rs773136934
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) rs1174933176
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) rs1586803187
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser) rs2131512957
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser) rs1809302381
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.485-2del
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_020631.6(PLEKHG5):c.1132-1G>T rs2148585199
NM_020631.6(PLEKHG5):c.1393-2A>C
NM_020631.6(PLEKHG5):c.1542+1G>C
NM_020631.6(PLEKHG5):c.1543-2A>G
NM_020631.6(PLEKHG5):c.1680+1G>T
NM_020631.6(PLEKHG5):c.1801-2A>G
NM_020631.6(PLEKHG5):c.1933+1del
NM_020631.6(PLEKHG5):c.1934-2A>C
NM_020631.6(PLEKHG5):c.2249+1G>A
NM_020631.6(PLEKHG5):c.2250-2A>C
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro)
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys) rs387906902
NM_021625.5(TRPV4):c.2386_2388del (p.Asn796del) rs1889549195
NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro) rs769107613
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu) rs387906905
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.227A>G (p.Asp76Gly) rs1714805406
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)
NM_022489.4(INF2):c.314T>A (p.Val105Glu) rs1555373363
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.470G>A (p.Gly157Asp) rs2140647207
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024577.4(SH3TC2):c.280-2A>G rs1561770798
NM_024577.4(SH3TC2):c.3054-2A>C rs1580891465
NM_024577.4(SH3TC2):c.3054-2A>G
NM_024577.4(SH3TC2):c.3205-2A>G rs2127392891
NM_024577.4(SH3TC2):c.3478+2T>G rs2127392445
NM_024577.4(SH3TC2):c.385+1G>T rs2127401413
NM_024577.4(SH3TC2):c.385+2T>C rs773554464
NM_024577.4(SH3TC2):c.53-2A>G rs2127403412
NM_024577.4(SH3TC2):c.806-1G>A rs1554122560
NM_024577.4(SH3TC2):c.896G>C (p.Gly299Ala) rs1222332332
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.4(SBF2):c.1054-15_1054-2del
NM_030962.4(SBF2):c.1297-2A>G rs752649372
NM_030962.4(SBF2):c.3110+2_3110+4delinsGAG rs1856483925
NM_030962.4(SBF2):c.3257-1G>A
NM_030962.4(SBF2):c.3652+1G>C
NM_030962.4(SBF2):c.3979-2A>G
NM_030962.4(SBF2):c.4571-1G>A rs2133861770
NM_030962.4(SBF2):c.4698+1del rs2133861507
NM_030962.4(SBF2):c.4699-1G>T
NM_030962.4(SBF2):c.4933-1G>A
NM_030962.4(SBF2):c.5038-2A>G rs2133850270
NM_030962.4(SBF2):c.56-1G>A rs2135330973
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys) rs267607548
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn) rs267607567
NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln) rs267607634
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys) rs1553265733
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val) rs2102888292
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser) rs1060502214
NM_170707.4(LMNA):c.112C>G (p.Leu38Val) rs2102817550
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe) rs2102817550
NM_170707.4(LMNA):c.1138T>A (p.Leu380Met)
NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp) rs267607603
NM_170707.4(LMNA):c.1157+1G>A rs267607590
NM_170707.4(LMNA):c.1157+1G>T rs267607590
NM_170707.4(LMNA):c.1158-1G>T rs1651598289
NM_170707.4(LMNA):c.115A>C (p.Asn39His) rs267607627
NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)
NM_170707.4(LMNA):c.116A>T (p.Asn39Ile) rs57983345
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln) rs267607620
NM_170707.4(LMNA):c.125T>C (p.Leu42Ser) rs2102817644
NM_170707.4(LMNA):c.1316G>A (p.Arg439His)
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val) rs58541611
NM_170707.4(LMNA):c.133T>C (p.Tyr45His) rs1649714371
NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr) rs267607599
NM_170707.4(LMNA):c.1367A>C (p.Asn456Thr)
NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys) rs61235244
NM_170707.4(LMNA):c.136A>G (p.Ile46Val) rs267607615
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg) rs267607639
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.143G>A (p.Arg48His)
NM_170707.4(LMNA):c.143G>C (p.Arg48Pro) rs1572332235
NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg) rs1558132909
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.1488+1G>T rs267607640
NM_170707.4(LMNA):c.1489-2A>G rs879254081
NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys)
NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro)
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-2A>G
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser)
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) rs28928900
NM_170707.4(LMNA):c.179G>A (p.Arg60His)
NM_170707.4(LMNA):c.184C>T (p.Arg62Cys) rs56793579
NM_170707.4(LMNA):c.185G>T (p.Arg62Leu) rs1649721643
NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)
NM_170707.4(LMNA):c.194A>T (p.Glu65Val)
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.245A>G (p.Glu82Gly)
NM_170707.4(LMNA):c.254T>A (p.Leu85His) rs28933090
NM_170707.4(LMNA):c.265C>G (p.Arg89Gly) rs267607559
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro) rs59040894
NM_170707.4(LMNA):c.274C>G (p.Leu92Val) rs267607560
NM_170707.4(LMNA):c.28A>C (p.Thr10Pro)
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro) rs60652225
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr) rs397517903
NM_170707.4(LMNA):c.513+1G>A rs397517904
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.513+2T>C rs1553264668
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.513G>A (p.Lys171=) rs267607542
NM_170707.4(LMNA):c.590T>C (p.Leu197Pro) rs1651348222
NM_170707.4(LMNA):c.593A>C (p.Gln198Pro) rs2102878915
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.639+1G>A rs869125101
NM_170707.4(LMNA):c.639+1G>T rs869125101
NM_170707.4(LMNA):c.640-2A>G rs1572359505
NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)
NM_170707.4(LMNA):c.674G>T (p.Arg225Leu) rs199474724
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.725C>A (p.Ala242Glu)
NM_170707.4(LMNA):c.734T>A (p.Leu245Gln)
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) rs58327533
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) rs121912496
NM_170707.4(LMNA):c.74G>A (p.Arg25His)
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) rs61578124
NM_170707.4(LMNA):c.811-1G>A rs1365042239
NM_170707.4(LMNA):c.811-2A>G rs2102883099
NM_170707.4(LMNA):c.857_859del (p.Gly286del) rs59564495
NM_170707.4(LMNA):c.869A>T (p.Glu290Val) rs1651453317
NM_170707.4(LMNA):c.893G>A (p.Arg298His)
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.937-1G>A rs1553265606
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro) rs59301204
NM_181882.3(PRX):c.184+2T>A rs2079511684
NM_181882.3(PRX):c.184+2T>C rs2079511684
NM_181882.3(PRX):c.3445_3446insAGATGCCACCTGTG (p.Gly1149fs)
NM_181882.3(PRX):c.3502C>T (p.Gln1168Ter) rs2145726269

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