ClinVar Miner

List of variants reported as benign by Molecular Genetics Laboratory, London Health Sciences Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
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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_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_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_006415.4(SPTLC1):c.1254+10C>T rs200704785 0.00006
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_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_001540.5(HSPB1):c.235C>T (p.Arg79Trp) rs556995718
NM_002180.3(IGHMBP2):c.1538-20C>T rs147148090
NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn) rs1858067155
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_006158.5(NEFL):c.507G>A (p.Glu169=) rs750417735
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

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