ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Molecular Genetics Laboratory, London Health Sciences Centre

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ClinVar version:
Total variants: 642
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_181882.3(PRX):c.892C>T (p.Pro298Ser) rs185112635 0.00262
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882 0.00128
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
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_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922 0.00063
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543 0.00063
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782 0.00057
NM_006096.4(NDRG1):c.122A>G (p.His41Arg) rs2233318 0.00054
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467 0.00053
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00051
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787 0.00049
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705 0.00048
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met) rs139572764 0.00046
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124 0.00045
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571 0.00041
NM_030973.4(MED25):c.1677G>C (p.Met559Ile) rs369006637 0.00041
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr) rs142567076 0.00037
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00036
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346 0.00031
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met) rs148383122 0.00030
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_181882.3(PRX):c.361C>T (p.Arg121Trp) rs750435566 0.00029
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_024577.4(SH3TC2):c.385+3A>G rs184593694 0.00026
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00024
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp) rs201826412 0.00024
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser) rs137993172 0.00024
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val) rs149732789 0.00022
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg) rs201283647 0.00020
NM_006096.4(NDRG1):c.63+6T>C rs199597649 0.00020
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp) rs151196994 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
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_030973.4(MED25):c.247C>G (p.Gln83Glu) rs143148835 0.00018
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile) rs142881321 0.00017
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu) rs201393544 0.00017
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His) rs138040787 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val) rs147438385 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114 0.00015
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser) rs199995009 0.00015
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_001605.3(AARS1):c.1108A>G (p.Met370Val) rs199976742 0.00014
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) rs186380748 0.00014
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala) rs201500946 0.00013
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu) rs150873930 0.00013
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala) rs370622071 0.00013
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) rs758191113 0.00013
NM_006158.5(NEFL):c.339G>C (p.Gln113His) rs750251152 0.00013
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr) rs370994862 0.00013
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu) rs552529704 0.00012
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602 0.00012
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu) rs143251785 0.00011
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255 0.00011
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser) rs371595630 0.00010
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) rs372245403 0.00010
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser) rs145654854 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608 0.00010
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr) rs143654307 0.00009
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307 0.00009
NM_005391.5(PDK3):c.341A>C (p.Lys114Thr) rs146331370 0.00009
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) rs369803886 0.00009
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys) rs375665454 0.00008
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn) rs748377952 0.00008
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu) rs146364285 0.00008
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg) rs758057597 0.00008
NM_181882.3(PRX):c.574C>T (p.Arg192Trp) rs780147663 0.00008
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys) rs138490305 0.00007
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=) rs201959970 0.00007
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) rs202118022 0.00007
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) rs146689226 0.00007
NM_014845.6(FIG4):c.498-13A>G rs199891240 0.00007
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_181882.3(PRX):c.922A>G (p.Thr308Ala) rs753330520 0.00007
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 0.00006
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) rs768672234 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) rs1175521163 0.00006
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His) rs142460913 0.00006
NM_021625.5(TRPV4):c.746G>A (p.Arg249His) rs771294425 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys) rs537664679 0.00006
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln) rs377009047 0.00006
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_181882.3(PRX):c.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941 0.00005
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388 0.00005
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser) rs776411681 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023 0.00005
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
NM_181882.3(PRX):c.3239G>A (p.Arg1080His) rs762213719 0.00005
NM_181882.3(PRX):c.3809G>A (p.Arg1270His) rs775221457 0.00005
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984 0.00004
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00004
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His) rs537838691 0.00004
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085 0.00004
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met) rs775480266 0.00004
NM_001365951.3(KIF1B):c.3259+3A>C rs1388178227 0.00004
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile) rs769092155 0.00004
NM_001540.5(HSPB1):c.-15G>A rs756260929 0.00004
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351 0.00004
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp) rs377163632 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852 0.00004
NM_004990.4(MARS1):c.1448G>A (p.Arg483His) rs779123068 0.00004
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530 0.00004
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys) rs745584505 0.00004
NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) rs200773661 0.00004
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) rs540759977 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln) rs770364304 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) rs771921298 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_030962.4(SBF2):c.1015C>G (p.Pro339Ala) rs1360970766 0.00004
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln) rs188588431 0.00004
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln) rs546485749 0.00004
NM_030973.4(MED25):c.4G>C (p.Val2Leu) rs780512266 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys) rs772009400 0.00004
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln) rs752531623 0.00004
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln) rs759435622 0.00004
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala) rs368067072 0.00004
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) rs745823802 0.00003
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212 0.00003
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr) rs200614254 0.00003
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg) rs749610931 0.00003
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser) rs746822330 0.00003
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) rs763378637 0.00003
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) rs1225363387 0.00003
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261 0.00003
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220 0.00003
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) rs544935330 0.00003
NM_014874.4(MFN2):c.1181G>A (p.Arg394His) rs538243357 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu) rs766735605 0.00003
NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422 0.00003
NM_021625.5(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp) rs185149793 0.00003
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg) rs746860317 0.00003
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala) rs374114606 0.00003
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu) rs764017333 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_181882.3(PRX):c.1714G>A (p.Val572Met) rs370979792 0.00003
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) rs761769929 0.00003
NM_181882.3(PRX):c.539C>T (p.Pro180Leu) rs540526276 0.00003
NM_000304.4(PMP22):c.179-13C>G rs756820859 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323 0.00002
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro) rs767714652 0.00002
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys) rs1359751742 0.00002
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys) rs748017885 0.00002
NM_001136472.2(LITAF):c.479G>A (p.Arg160His) rs864622744 0.00002
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr) rs551899273 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) rs148605058 0.00002
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu) rs754681347 0.00002
NM_004990.4(MARS1):c.1172A>G (p.His391Arg) rs780935468 0.00002
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743 0.00002
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp) rs754546247 0.00002
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944 0.00002
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) rs376785642 0.00002
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala) rs781381539 0.00002
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys) rs138285479 0.00002
NM_006096.4(NDRG1):c.635G>A (p.Arg212His) rs931069567 0.00002
NM_006096.4(NDRG1):c.703C>T (p.Arg235Cys) rs772268356 0.00002
NM_006158.5(NEFL):c.*2C>A rs754312148 0.00002
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) rs371203080 0.00002
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg) rs756851126 0.00002
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) rs372095826 0.00002
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) rs887196115 0.00002
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) rs762473236 0.00002
NM_021625.5(TRPV4):c.183C>T (p.Gly61=) rs773744592 0.00002
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs372583866 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) rs772832716 0.00002
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His) rs146997517 0.00002
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu) rs759614174 0.00002
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr) rs148831039 0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs758669363 0.00002
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys) rs770723203 0.00002
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val) rs755264093 0.00002
NM_030973.4(MED25):c.125C>T (p.Pro42Leu) rs779085896 0.00002
NM_030973.4(MED25):c.557G>A (p.Arg186Gln) rs1376475717 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_181882.3(PRX):c.10A>G (p.Arg4Gly) rs760534109 0.00002
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu) rs767098112 0.00002
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) rs369224308 0.00002
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val) rs765924621 0.00002
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys) rs771840476 0.00002
NM_181882.3(PRX):c.502C>T (p.Arg168Trp) rs374193988 0.00002
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) rs140763467 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp) rs749575647 0.00001
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662 0.00001
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His) rs143910539 0.00001
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685 0.00001
NM_001136472.2(LITAF):c.269G>A (p.Arg90His) rs200789696 0.00001
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met) rs141942131 0.00001
NM_001365951.3(KIF1B):c.3140C>T (p.Ser1047Leu) rs267597898 0.00001
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His) rs567728453 0.00001
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr) rs376471111 0.00001
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp) rs758454220 0.00001
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val) rs866755197 0.00001
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) rs762280202 0.00001
NM_001370298.3(FGD4):c.1102-5T>A rs1459339879 0.00001
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr) rs755934741 0.00001
NM_001370298.3(FGD4):c.2041G>A (p.Val681Ile) rs753988910 0.00001
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr) rs201660852 0.00001
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695 0.00001
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met) rs770188348 0.00001
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val) rs992393537 0.00001
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile) rs760230019 0.00001
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405 0.00001
NM_001540.5(HSPB1):c.349G>A (p.Val117Met) rs1803031652 0.00001
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306 0.00001
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) rs1597439359 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001605.3(AARS1):c.72G>A (p.Thr24=) rs780609058 0.00001
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu) rs1374950172 0.00001
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu) rs1287718221 0.00001
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) rs373017768 0.00001
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) rs774522176 0.00001
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) rs766757770 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser) rs746654999 0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) rs1280661109 0.00001
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln) rs778662742 0.00001
NM_004990.4(MARS1):c.1368+3A>T rs1205318968 0.00001
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser) rs778085997 0.00001
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718 0.00001
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val) rs969642249 0.00001
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr) rs748782766 0.00001
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys) rs1213776109 0.00001
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn) rs1337832950 0.00001
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) rs765260132 0.00001
NM_006158.5(NEFL):c.637A>G (p.Ile213Val) rs538481538 0.00001
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) rs764562926 0.00001
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val) rs776063730 0.00001
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr) rs376427329 0.00001
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) rs150792865 0.00001
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln) rs771021842 0.00001
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827 0.00001
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met) rs1376239309 0.00001
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp) rs1255518113 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) rs745860370 0.00001
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) rs142042485 0.00001
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu) rs746806455 0.00001
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu) rs1424551887 0.00001
NM_016156.6(MTMR2):c.1770+3A>G rs756909627 0.00001
NM_021625.5(TRPV4):c.-16C>T rs762801533 0.00001
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp) rs759501013 0.00001
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr) rs546287338 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) rs766420746 0.00001
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) rs1213728059 0.00001
NM_021625.5(TRPV4):c.2336+1G>A rs771778984 0.00001
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 0.00001
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) rs768620169 0.00001
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp) rs1235218303 0.00001
NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu) rs779371027 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly) rs989621170 0.00001
NM_024577.4(SH3TC2):c.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro) rs1172985848 0.00001
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) rs757167683 0.00001
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720 0.00001
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) rs1303051798 0.00001
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys) rs779075488 0.00001
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) rs1416387782 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172 0.00001
NM_024577.4(SH3TC2):c.279+4A>G rs371909418 0.00001
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile) rs1380115510 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His) rs748413646 0.00001
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053 0.00001
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) rs781625125 0.00001
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met) rs745613768 0.00001
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met) rs757969875 0.00001
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg) rs770153492 0.00001
NM_030962.4(SBF2):c.1244G>T (p.Gly415Val) rs996602317 0.00001
NM_030962.4(SBF2):c.1563A>G (p.Ile521Met) rs770392081 0.00001
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val) rs753427715 0.00001
NM_030962.4(SBF2):c.3386G>C (p.Ser1129Thr) rs187674701 0.00001
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His) rs757577170 0.00001
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser) rs760210827 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_030962.4(SBF2):c.4981C>G (p.Gln1661Glu) rs1337750415 0.00001
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484 0.00001
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly) rs1441387053 0.00001
NM_030962.4(SBF2):c.808A>G (p.Thr270Ala) rs1194829190 0.00001
NM_030962.4(SBF2):c.87G>C (p.Gln29His) rs751336040 0.00001
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg) rs758820956 0.00001
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) rs765135124 0.00001
NM_030973.4(MED25):c.413C>T (p.Thr138Met) rs200785685 0.00001
NM_030973.4(MED25):c.556C>T (p.Arg186Trp) rs776291104 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln) rs768986279 0.00001
NM_170707.4(LMNA):c.571G>A (p.Val191Met) rs879253896 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr) rs752783967 0.00001
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp) rs746394555 0.00001
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala) rs201044009 0.00001
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) rs760423138 0.00001
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) rs1167411868 0.00001
NM_181882.3(PRX):c.1684G>A (p.Val562Met) rs1234205162 0.00001
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) rs757931043 0.00001
NM_181882.3(PRX):c.182A>G (p.Glu61Gly) rs779928693 0.00001
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) rs2079438994 0.00001
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) rs1387072587 0.00001
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) rs755014286 0.00001
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) rs570569581 0.00001
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser) rs761267361 0.00001
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr) rs773246710 0.00001
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) rs749251511 0.00001
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) rs751126995 0.00001
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) rs1486029743 0.00001
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) rs778270475 0.00001
NM_181882.3(PRX):c.556C>T (p.Arg186Trp) rs539484549 0.00001
NM_181882.3(PRX):c.617G>A (p.Arg206Gln) rs765911262 0.00001
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549 0.00001
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn) rs766201464
NM_000166.6(GJB1):c.573C>T (p.Thr191=) rs776040132
NM_000304.4(PMP22):c.238CTGTTC[1] (p.80LF[1]) rs1907117054
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys) rs1555565234
NM_000304.4(PMP22):c.299G>T (p.Gly100Val) rs1597607638
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser) rs1906257962
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln) rs1842165681
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) rs746688326
NM_000399.5(EGR2):c.938A>G (p.His313Arg) rs772972643
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser) rs876661287
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr) rs1571819890
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) rs1170786711
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg) rs920464920
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr) rs267607242
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro) rs1670242746
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) rs1670234637
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys) rs767339597
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) rs1670224859
NM_001005373.4(LRSAM1):c.1261A>G (p.Met421Val) rs1835780785
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg) rs1345645228
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp) rs1183629673
NM_001005373.4(LRSAM1):c.1936G>T (p.Val646Phe) rs748358043
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_001005373.4(LRSAM1):c.253-9C>A rs199925705
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser) rs2064271547
NM_001136472.2(LITAF):c.412G>A (p.Val138Met) rs780788687
NM_001136472.2(LITAF):c.430G>A (p.Val144Met) rs121908615
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu) rs896518063
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile) rs1650197606
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=) rs756935623
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del) rs766127664
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His) rs1650299804
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser) rs1652211900
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val) rs529804940
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val) rs868357926
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr) rs757828399
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe) rs775958513
NM_001365951.3(KIF1B):c.959-16T>A rs1206994711
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu) rs2048684224
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys) rs2048779548
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val) rs1567005557
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln) rs773425996
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln) rs2048175428
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His) rs1399321780
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) rs769311346
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr) rs1455898327
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn) rs1567605658
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) rs1228135551
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser) rs1783005436
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro) rs1785775131
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val) rs1859413172
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) rs1465803265
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro) rs1858185704
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr) rs1859566434
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly) rs763406969
NM_002180.3(IGHMBP2):c.2612-3C>T rs1859624455
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile) rs1594458412
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu) rs147001168
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro) rs1858294034
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr) rs778232785
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) rs1858584931
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile) rs2030801103
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly) rs1933806198
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys) rs1876868867
NM_004990.4(MARS1):c.1427C>A (p.Pro476His) rs752787612
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu) rs1877841043
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) rs145260922
NM_005391.5(PDK3):c.1077+4C>T rs1922654884
NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter) rs1922715641
NM_005391.5(PDK3):c.467C>T (p.Thr156Ile) rs1602114620
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly) rs779065972
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp) rs1286565668
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr) rs1855416179
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del) rs1803033503
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe) rs1803010527
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn) rs1586126731
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) rs1803003337
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) rs1323026981
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) rs776351925
NM_006158.5(NEFL):c.509C>G (p.Thr170Ser) rs541360328
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly) rs199606270
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del) rs777170186
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val) rs376342795
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu) rs781435924
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu) rs773564082
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) rs1951895452
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg) rs1562677647
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu) rs1777638116
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe) rs754830354
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) rs760215765
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val) rs1778168177
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.799G>C (p.Val267Leu) rs1776321116
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1393-8G>A rs1639330742
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg) rs61733200
NM_014874.4(MFN2):c.176-3C>T rs975369655
NM_014874.4(MFN2):c.2093A>G (p.His698Arg) rs1060501916
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del) rs1639600409
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg) rs1557537346
NM_014874.4(MFN2):c.262A>G (p.Ile88Val) rs1569816194
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.628G>C (p.Asp210His) rs1064794315
NM_014874.4(MFN2):c.661G>C (p.Asp221His) rs1569842525
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) rs1569842714
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe) rs1639057845
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) rs1569844113
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys) rs1453267972
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) rs1639171448
NM_016156.6(MTMR2):c.*17G>A rs1590967661
NM_016156.6(MTMR2):c.-15T>C rs1867041432
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe) rs1356220463
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) rs770714080
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg) rs1808794425
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr) rs1808792150
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) rs1006063188
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.5(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) rs1252509184
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met) rs1255642563
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser) rs754155333
NM_021625.5(TRPV4):c.712+1G>T rs1449705702
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro) rs752366465
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) rs1754119445
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser) rs1370966250
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) rs537134516
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr) rs757781673
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser) rs571440448
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg) rs1754096264
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala) rs1332446150
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) rs1754090424
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) rs746538256
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met) rs1754081317
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) rs1205847384
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met) rs763964456
NM_024577.4(SH3TC2):c.3204+5G>A rs1753801589
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly) rs1753657973
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val) rs1261276778
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu) rs1754371447
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro) rs747024391
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp) rs532463685
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu) rs777289065
NM_030962.4(SBF2):c.266A>C (p.Glu89Ala) rs1949706329
NM_030962.4(SBF2):c.3383G>A (p.Gly1128Asp) rs1855965122
NM_030962.4(SBF2):c.4332A>C (p.Lys1444Asn) rs1853955123
NM_030962.4(SBF2):c.4355A>G (p.Lys1452Arg) rs1853954509
NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr) rs1853953374
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030962.4(SBF2):c.861+5G>C rs879253963
NM_030973.4(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser) rs964471885
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu) rs775342932
NM_030973.4(MED25):c.249A>C (p.Gln83His) rs1291395600
NM_030973.4(MED25):c.807_809del (p.Pro270del) rs767980819
NM_030973.4(MED25):c.908-3_908-2del rs766739944
NM_170707.4(LMNA):c.1639G>A (p.Val547Met) rs201947393
NM_170707.4(LMNA):c.583A>C (p.Asn195His) rs1651346681
NM_170707.4(LMNA):c.897C>G (p.Ile299Met) rs762718963
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu) rs2079443969
NM_181882.3(PRX):c.158C>A (p.Ala53Asp) rs753322071
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys) rs1318870390
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro) rs1299743311
NM_181882.3(PRX):c.17G>T (p.Arg6Leu) rs774078598
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr) rs541455813
NM_181882.3(PRX):c.2297T>C (p.Val766Ala) rs1599653064
NM_181882.3(PRX):c.2628G>A (p.Met876Ile) rs1307077953
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu) rs1322545345
NM_181882.3(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu) rs996865233
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys) rs2079418168
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del) rs1359760408
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val) rs2079417519
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg) rs778707867
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys) rs2079412833
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly) rs2079412133
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp) rs2079410631
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) rs767394584
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) rs748112276
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg) rs1296150158
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr) rs2079404176
NM_181882.3(PRX):c.44A>G (p.Glu15Gly) rs202192239
NM_181882.3(PRX):c.500G>A (p.Arg167His) rs757322355
NM_181882.3(PRX):c.680C>T (p.Ala227Val) rs532808153
NM_181882.3(PRX):c.682C>G (p.Arg228Gly) rs751238438
NM_181882.3(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) rs2079451762

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