ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 362
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.*3920del rs144034303 0.09005
NM_024577.4(SH3TC2):c.*21472A>G rs59731646 0.03434
NM_006096.4(NDRG1):c.*1622T>G rs7825439 0.02986
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02587
NM_018972.4(GDAP1):c.*2408G>A rs11996204 0.02523
NR_039718.1(MIR4497):n.66C>T rs56079803 0.02373
NM_006096.4(NDRG1):c.*264C>G rs73711834 0.02269
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01549
NM_024577.4(SH3TC2):c.*7810T>A rs57517567 0.01532
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_006096.4(NDRG1):c.*653T>C rs147301529 0.01388
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_024577.4(SH3TC2):c.*4279C>G rs74578025 0.01256
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01225
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_024577.4(SH3TC2):c.*8533A>G rs139372772 0.00891
NM_024577.4(SH3TC2):c.*12807G>A rs150317192 0.00846
NM_000530.8(MPZ):c.*195G>T rs150182811 0.00828
NM_024577.4(SH3TC2):c.*16947C>T rs142551288 0.00770
NM_024577.4(SH3TC2):c.*4052T>C rs147125913 0.00707
NM_000530.8(MPZ):c.*1048A>T rs71639057 0.00663
NM_024577.4(SH3TC2):c.*15489G>A rs115194965 0.00652
NM_024577.4(SH3TC2):c.*6470T>C rs185164450 0.00616
NM_018972.4(GDAP1):c.*1162T>C rs113017051 0.00611
NM_024577.4(SH3TC2):c.*16395G>T rs116508083 0.00567
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_018972.4(GDAP1):c.*723G>A rs116863614 0.00512
NM_018972.4(GDAP1):c.*1819T>C rs141157275 0.00466
NM_024577.4(SH3TC2):c.*6600T>C rs115541211 0.00464
NM_024577.4(SH3TC2):c.*20512C>A rs76577532 0.00463
NM_001370298.3(FGD4):c.*3367G>T rs188648275 0.00457
NM_024577.4(SH3TC2):c.*16169G>A rs191600511 0.00417
NM_001370298.3(FGD4):c.*3676A>G rs189489067 0.00409
NM_016156.6(MTMR2):c.*1684A>C rs79576160 0.00401
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_024577.4(SH3TC2):c.*8277G>A rs147532508 0.00387
NM_024577.4(SH3TC2):c.*3061A>G rs138823547 0.00372
NM_001370298.3(FGD4):c.*2103A>G rs55963204 0.00370
NM_018972.4(GDAP1):c.*1006C>T rs145523828 0.00367
NM_024577.4(SH3TC2):c.*21786G>A rs6890482 0.00357
NM_024577.4(SH3TC2):c.*6301C>T rs188143654 0.00337
NM_024577.4(SH3TC2):c.*18606T>G rs182775401 0.00336
NM_024577.4(SH3TC2):c.*12550A>G rs137953180 0.00330
NM_016156.6(MTMR2):c.*837G>A rs532069328 0.00323
NM_024577.4(SH3TC2):c.*3079G>A rs185297430 0.00322
NM_024577.4(SH3TC2):c.*6047T>A rs139490756 0.00322
NM_024577.4(SH3TC2):c.*7918C>T rs148732819 0.00322
NM_181882.3(PRX):c.-236G>A rs552436076 0.00317
NM_024577.4(SH3TC2):c.*13204A>G rs141603977 0.00315
NM_024577.4(SH3TC2):c.*5536T>G rs146756049 0.00315
NM_024577.4(SH3TC2):c.*16784C>T rs144720540 0.00314
NM_024577.4(SH3TC2):c.*1750C>T rs146276637 0.00314
NM_024577.4(SH3TC2):c.*5947C>G rs143516557 0.00314
NM_024577.4(SH3TC2):c.*13230C>T rs138600983 0.00313
NM_024577.4(SH3TC2):c.*20142A>G rs189978591 0.00313
NM_024577.4(SH3TC2):c.*22212G>A rs149300520 0.00313
NM_024577.4(SH3TC2):c.*11010A>G rs114735628 0.00312
NM_001370298.3(FGD4):c.*4497G>A rs367545740 0.00303
NM_001540.5(HSPB1):c.*22C>T rs557532119 0.00300
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_024577.4(SH3TC2):c.*4298C>T rs145849837 0.00296
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_024577.4(SH3TC2):c.*13352G>A rs192178726 0.00295
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_016156.6(MTMR2):c.*2187A>G rs141738388 0.00241
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00230
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00216
NM_001605.3(AARS1):c.*213C>T rs150625194 0.00211
NM_030962.4(SBF2):c.*112G>A rs144513995 0.00201
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_001370298.3(FGD4):c.*167G>A rs138847108 0.00176
NM_001370298.3(FGD4):c.*4028A>G rs75608969 0.00175
NM_001370298.3(FGD4):c.*4585T>A rs140048835 0.00175
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_024577.4(SH3TC2):c.*22357T>C rs191754280 0.00158
NM_001365951.3(KIF1B):c.-260C>T rs149705989 0.00154
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_181882.3(PRX):c.*144C>T rs189487790 0.00143
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_024577.4(SH3TC2):c.*13645C>T rs180704051 0.00133
NM_024577.4(SH3TC2):c.*797A>G rs140821223 0.00133
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_024577.4(SH3TC2):c.*2081T>G rs543206033 0.00127
NM_024577.4(SH3TC2):c.*18476T>C rs185251230 0.00125
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_001370298.3(FGD4):c.*2638A>G rs193167910 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_024577.4(SH3TC2):c.*2987C>T rs565331463 0.00106
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_024577.4(SH3TC2):c.*2269G>T rs575693285 0.00103
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_024577.4(SH3TC2):c.*9361C>T rs573872364 0.00096
NM_024577.4(SH3TC2):c.*19002A>G rs546701780 0.00091
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_024577.4(SH3TC2):c.*711A>C rs567593663 0.00079
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_024577.4(SH3TC2):c.*16378C>A rs144423228 0.00077
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_024577.4(SH3TC2):c.*4713G>A rs191742061 0.00074
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_024577.4(SH3TC2):c.*11427G>A rs535822101 0.00067
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_001136472.2(LITAF):c.377+13C>G rs200357430 0.00058
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met) rs55826713 0.00058
NM_024577.4(SH3TC2):c.*6993T>C rs563203537 0.00057
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_001136472.2(LITAF):c.6G>A (p.Ser2=) rs147187481 0.00052
NM_024577.4(SH3TC2):c.*1765G>C rs144178710 0.00052
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_024577.4(SH3TC2):c.*9953C>T rs535186520 0.00046
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_001605.3(AARS1):c.2178-14G>A rs371633904 0.00045
NM_001370298.3(FGD4):c.*4831C>T rs145433607 0.00044
NM_024577.4(SH3TC2):c.*7939C>A rs144288040 0.00044
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu) rs115861965 0.00043
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met) rs570675468 0.00042
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_024577.4(SH3TC2):c.*6350G>A rs184940808 0.00041
NM_024577.4(SH3TC2):c.*6820T>C rs60176324 0.00041
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379 0.00039
NM_006158.5(NEFL):c.*436T>G rs542234603 0.00038
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His) rs140808447 0.00035
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873 0.00034
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_024577.4(SH3TC2):c.*837G>A rs565462353 0.00033
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_000530.8(MPZ):c.*743C>T rs140992541 0.00031
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_016156.6(MTMR2):c.*1089C>G rs147982779 0.00031
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788 0.00030
NM_024577.4(SH3TC2):c.*21728T>C rs142485824 0.00030
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=) rs199887448 0.00029
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_024577.4(SH3TC2):c.*12509T>C rs550901114 0.00028
NM_001370298.3(FGD4):c.*5244G>A rs186014657 0.00027
NM_001376.5(DYNC1H1):c.-13C>G rs537857759 0.00026
NM_006096.4(NDRG1):c.*1473G>A rs187466317 0.00026
NM_021625.5(TRPV4):c.501C>T (p.Asp167=) rs77680510 0.00026
NM_018972.4(GDAP1):c.*1701T>C rs781146378 0.00025
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg) rs201241092 0.00025
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668 0.00024
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_001605.3(AARS1):c.2217C>T (p.Ile739=) rs770980206 0.00022
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810 0.00021
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135 0.00021
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293 0.00021
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_001136472.2(LITAF):c.241G>A (p.Val81Met) rs201653834 0.00018
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp) rs201337455 0.00018
NM_001005373.4(LRSAM1):c.*590T>C rs139260397 0.00017
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_024577.4(SH3TC2):c.*12189C>T rs192729911 0.00017
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) rs140532785 0.00016
NM_021625.5(TRPV4):c.1658+15C>T rs200083069 0.00016
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114 0.00015
NM_000530.8(MPZ):c.*52G>A rs774701563 0.00014
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479 0.00014
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519 0.00013
NM_006158.5(NEFL):c.339G>C (p.Gln113His) rs750251152 0.00013
NM_030962.4(SBF2):c.*1091G>A rs182391972 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_001605.3(AARS1):c.1671+10C>T rs184240527 0.00012
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665 0.00012
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001136472.2(LITAF):c.*1853A>G rs759832566 0.00011
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853 0.00011
NM_001605.3(AARS1):c.1509G>A (p.Val503=) rs138406510 0.00011
NM_004637.6(RAB7A):c.552C>T (p.Asn184=) rs143140848 0.00011
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663 0.00010
NM_014874.4(MFN2):c.*1706T>G rs543365043 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_024577.4(SH3TC2):c.*10875T>C rs184560843 0.00010
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069 0.00010
NM_181882.3(PRX):c.1836C>T (p.Ala612=) rs574899855 0.00010
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877 0.00009
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=) rs199997686 0.00009
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=) rs147205387 0.00009
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652 0.00009
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002047.4(GARS1):c.882-15T>G rs199741850 0.00008
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met) rs140535889 0.00008
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128 0.00007
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
NM_024577.4(SH3TC2):c.*4446G>C rs186152591 0.00007
NM_001136472.2(LITAF):c.147G>A (p.Thr49=) rs145659732 0.00006
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr) rs138454151 0.00006
NM_004637.6(RAB7A):c.*1141C>T rs192329045 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His) rs368689811 0.00005
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp) rs763390117 0.00004
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_014874.4(MFN2):c.522T>C (p.His174=) rs762789747 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=) rs140040335 0.00004
NM_021625.5(TRPV4):c.936G>A (p.Ala312=) rs202084699 0.00004
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001005373.4(LRSAM1):c.1504-5C>G rs377190920 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 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_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046 0.00003
NM_006096.4(NDRG1):c.*377G>A rs377385607 0.00003
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.493C>T (p.Arg165Cys) rs555499679 0.00003
NM_000399.5(EGR2):c.-1A>G rs553201646 0.00002
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753 0.00002
NM_003680.4(YARS1):c.684+3A>G rs375332060 0.00002
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) rs758305388 0.00002
NM_014365.3(HSPB8):c.48G>A (p.Leu16=) rs755586270 0.00002
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00002
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075 0.00002
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403 0.00001
NM_001605.3(AARS1):c.1656T>C (p.Asp552=) rs148659998 0.00001
NM_001605.3(AARS1):c.2019G>C (p.Leu673=) rs775476419 0.00001
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=) rs189872222 0.00001
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) rs548909101 0.00001
NM_024577.4(SH3TC2):c.*12637A>G rs536941130 0.00001
NM_024577.4(SH3TC2):c.*2341A>G rs531168193 0.00001
NM_024577.4(SH3TC2):c.*6302T>A rs545169695 0.00001
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_001005373.4(LRSAM1):c.*105del rs200242834
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr) rs202166023
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn) rs551957380
NM_001365951.3(KIF1B):c.*4127dup rs548680591
NM_001365951.3(KIF1B):c.*4279dup rs531640427
NM_001365951.3(KIF1B):c.-26TA[7] rs34063243
NM_001370298.3(FGD4):c.*4014C>A rs187562428
NM_001370298.3(FGD4):c.167-62037C>A rs79370524
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001540.5(HSPB1):c.108C>G (p.Pro36=) rs765197724
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_002047.4(GARS1):c.*145del rs529035174
NM_002047.4(GARS1):c.*36del rs758974790
NM_002047.4(GARS1):c.-36C>A rs531483802
NM_004637.6(RAB7A):c.*1026G>A rs376185459
NM_004637.6(RAB7A):c.*997del rs371200521
NM_006158.5(NEFL):c.558G>A (p.Glu186=) rs554279852
NM_014365.3(HSPB8):c.*848TAA[9] rs60924821
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014874.4(MFN2):c.*221_*222dup rs558848411
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1639A>T rs145245478
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_024577.4(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.4(SH3TC2):c.*14188C>T rs532583447
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*20099T>C rs73795728
NM_024577.4(SH3TC2):c.*20564A>T rs150905092
NM_024577.4(SH3TC2):c.*21474AAAC[2] rs146796490
NM_024577.4(SH3TC2):c.*22035G>A rs544954149
NM_024577.4(SH3TC2):c.*22553dup rs55932017
NM_024577.4(SH3TC2):c.*5020C>T rs371723580
NM_024577.4(SH3TC2):c.*858_*861del rs5872107
NM_024577.4(SH3TC2):c.*8622del rs562125931
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035

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