ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 323
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.117+28G>A rs4321999 0.99293
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_001005373.4(LRSAM1):c.903+38T>C rs1539569 0.77244
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_001365951.3(KIF1B):c.1223-28C>T rs3748575 0.55154
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_001005373.4(LRSAM1):c.750+33G>A rs2250267 0.43666
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_001376.5(DYNC1H1):c.12902+46G>A rs2273440 0.35190
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_006736.6(DNAJB2):c.66-14C>T rs2276638 0.26148
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_002180.3(IGHMBP2):c.1235+511T>C rs3794027 0.25405
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644 0.20803
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510 0.20452
NM_002180.3(IGHMBP2):c.1235+519C>T rs17533324 0.19249
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_018972.4(GDAP1):c.579+417A>G rs16938894 0.18236
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_006415.4(SPTLC1):c.560+16G>C rs73512337 0.16685
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_006736.6(DNAJB2):c.230-10G>A rs3731897 0.16060
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529 0.15530
NM_001370298.3(FGD4):c.2047-7T>C rs11052113 0.15340
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=) rs3742037 0.14446
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_006096.4(NDRG1):c.756-5C>T rs2227262 0.11176
NM_006736.6(DNAJB2):c.446-8G>A rs3821039 0.10187
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_001370298.3(FGD4):c.1750-12C>T rs73083501 0.08885
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_021625.5(TRPV4):c.795C>T (p.His265=) rs1344554 0.08478
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593 0.08113
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_001370298.3(FGD4):c.1404+8G>A rs12823621 0.07737
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_002180.3(IGHMBP2):c.1418+18A>G rs112575423 0.06280
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_006096.4(NDRG1):c.755+10T>C rs2233336 0.06123
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_006415.4(SPTLC1):c.1136+12A>G rs76562923 0.04351
NM_004637.6(RAB7A):c.219C>T (p.Leu73=) rs4548 0.04279
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_014845.6(FIG4):c.2377-20_2377-19insC rs201752617 0.03507
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03490
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001365951.3(KIF1B):c.3423-15del rs3215996 0.03458
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_181882.3(PRX):c.2017A>G (p.Met673Val) rs61735531 0.03414
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=) rs78120278 0.03339
NM_181882.3(PRX):c.2727C>T (p.Pro909=) rs61735546 0.03308
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115 0.03205
NM_001365951.3(KIF1B):c.1180+18C>T rs41274456 0.03074
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545 0.03061
NM_030962.4(SBF2):c.4933-15T>C rs75447733 0.03044
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210 0.03010
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=) rs17722227 0.02289
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser) rs73933276 0.02067
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_030973.4(MED25):c.165G>A (p.Thr55=) rs77400039 0.01828
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_001376.5(DYNC1H1):c.3960+16G>A rs11850726 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=) rs60803891 0.01632
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_030973.4(MED25):c.-12A>G rs114843375 0.01532
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_181882.3(PRX):c.471G>A (p.Glu157=) rs4803335 0.01488
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487 0.01454
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_006096.4(NDRG1):c.892-5C>T rs2233346 0.01290
NM_006415.4(SPTLC1):c.781-6A>G rs138268337 0.01288
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_001939.3(DRP2):c.1454+5G>A rs138775194 0.01247
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102 0.01123
NM_014874.4(MFN2):c.1039-19G>A rs74052923 0.01120
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly) rs61733451 0.01078
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00793
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_014874.4(MFN2):c.970+19G>A rs75865135 0.00707
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574 0.00680
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_181882.3(PRX):c.2469G>A (p.Ala823=) rs61733450 0.00644
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000304.4(PMP22):c.179-17G>A rs77406217 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245 0.00580
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00573
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758 0.00502
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_004990.4(MARS1):c.1753+7A>G rs117914586 0.00435
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_004990.4(MARS1):c.2204+11G>A rs202080192 0.00239
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_004990.4(MARS1):c.280-14C>T rs183195960 0.00223
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297 0.00206
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=) rs78611156 0.00200
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_021625.5(TRPV4):c.1585-18C>T rs201974634 0.00148
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
NM_002180.3(IGHMBP2):c.*3G>A rs372949830 0.00121
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967 0.00110
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414 0.00085
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211 0.00083
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415 0.00083
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=) rs141998703 0.00077
NM_000371.4(TTR):c.*3_*11del rs143948820 0.00076
NM_001136472.2(LITAF):c.330C>T (p.Asn110=) rs139116481 0.00062
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_000166.6(GJB1):c.-6G>A rs201344743 0.00043
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_002180.3(IGHMBP2):c.366C>T (p.His122=) rs144401213 0.00019
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359 0.00011
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_000166.6(GJB1):c.442G>A (p.Val148Ile) rs775956201 0.00007
NM_006415.4(SPTLC1):c.1254+10C>T rs200704785 0.00006
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_001365951.3(KIF1B):c.3423-15A>T rs200470260 0.00005
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_000166.6(GJB1):c.282C>T (p.His94=) rs756000896 0.00001
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) rs863223328 0.00001
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_001005373.4(LRSAM1):c.1422+42_1422+43del rs3053015
NM_001365951.3(KIF1B):c.1222+16_1222+17del rs35347635
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu) rs1650300630
NM_001365951.3(KIF1B):c.2043-9del rs58344165
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) rs904582
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_002180.3(IGHMBP2):c.1538-20C>T rs147148090
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_005391.5(PDK3):c.249-9del rs374771377
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_016156.6(MTMR2):c.186+19A>T rs12385798
NM_021625.5(TRPV4):c.1333-16A>C rs199994834
NM_021625.5(TRPV4):c.1584+18G>C rs10850750
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_024577.4(SH3TC2):c.151+15_151+16del rs569906096
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
NM_030973.4(MED25):c.1674+19C>T rs752522
NM_030973.4(MED25):c.234C>G (p.Pro78=) rs74863643
NM_181882.3(PRX):c.1836C>A (p.Ala612=) rs574899855
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.