ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
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HGVS dbSNP
NM_000166.6(GJB1):c.-6G>A rs201344743
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.179-17G>A
NM_000371.3(TTR):c.*3_*11del rs143948820
NM_000371.3(TTR):c.337-18G>C rs36204272
NM_000371.3(TTR):c.70-7C>T rs587780990
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_001365951.3(KIF1B):c.1222+16_1222+17del
NM_001365951.3(KIF1B):c.1223-28C>T
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu)
NM_001365951.3(KIF1B):c.2043-9del
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_001365951.3(KIF1B):c.4753-20C>A
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552
NM_001376.5(DYNC1H1):c.-5A>G rs17511858
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758
NM_001376.5(DYNC1H1):c.12902+46G>A rs2273440
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3960+16G>A
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001540.5(HSPB1):c.*11C>T rs1058872
NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.1613+9T>C rs75855065
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_002180.2(IGHMBP2):c.*3G>A rs372949830
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.1418+18A>G rs112575423
NM_002180.2(IGHMBP2):c.1538-20C>T rs147148090
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399
NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206
NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=) rs546382
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414
NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) rs624147
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315
NM_002180.2(IGHMBP2):c.366C>T (p.His122=) rs144401213
NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_002180.3(IGHMBP2):c.-2C>T rs4930624
NM_002180.3(IGHMBP2):c.1235+511T>C
NM_002180.3(IGHMBP2):c.1235+519C>T
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126
NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn)
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851
NM_004208.4(AIFM1):c.606-15C>T rs191297808
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211
NM_004990.4(MARS1):c.2204+11G>A rs202080192
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102
NM_004990.4(MARS1):c.280-14C>T rs183195960
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_005391.5(PDK3):c.249-9del
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006158.4(NEFL):c.1170-13T>C rs76347846
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.5(NEFL):c.507G>A (p.Glu169=)
NM_006415.4(SPTLC1):c.1136+12A>G rs76562923
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.1254+10C>T rs200704785
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006415.4(SPTLC1):c.560+16G>C rs73512337
NM_006415.4(SPTLC1):c.781-6A>G rs138268337
NM_006736.6(DNAJB2):c.230-10G>A rs3731897
NM_006736.6(DNAJB2):c.446-8G>A rs3821039
NM_006736.6(DNAJB2):c.66-14C>T rs2276638
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.447-16G>T rs200890189
NM_014845.5(FIG4):c.647-18C>A rs2273752
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.6(FIG4):c.2377-19T>C
NM_014845.6(FIG4):c.2377-20_2377-19insC
NM_014845.6(FIG4):c.446+32dup
NM_014845.6(FIG4):c.447-17dup
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup
NM_014874.3(MFN2):c.1039-19G>A rs74052923
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_014874.3(MFN2):c.1495+9C>T rs375494746
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.744C>T (p.Leu248=) rs61733205
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.970+19G>A rs75865135
NM_015074.3(KIF1B):c.1162+18C>T rs41274456
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.184-6_184-5del rs138324955
NM_015074.3(KIF1B):c.186C>T (p.Pro62=) rs141998703
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2832C>A (p.Ile944=) rs78611156
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3285-15A>T rs200470260
NM_015074.3(KIF1B):c.3285-15del rs3215996
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) rs147318592
NM_015074.3(KIF1B):c.363+6A>C rs114084418
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.4020G>A (p.Ser1340=) rs116302604
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) rs77172218
NM_015074.3(KIF1B):c.4808+9C>T rs72867431
NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) rs75413741
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015074.3(KIF1B):c.608+8dup rs139613776
NM_015074.3(KIF1B):c.720+17C>T rs1339458
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_016156.6(MTMR2):c.186+19A>T
NM_018972.4(GDAP1):c.117+28G>A rs4321999
NM_018972.4(GDAP1):c.310+6del rs780828430
NM_018972.4(GDAP1):c.485-20C>G rs73345392
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_018972.4(GDAP1):c.579+417A>G
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2674G>A rs61733450
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2932C>T rs61735546
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*3423A>G rs61733451
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*676G>A rs4803335
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1584+18G>C rs10850750
NM_021625.4(TRPV4):c.1585-18C>T rs201974634
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.2034C>T (p.Ile678=) rs3742037
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2459-9T>G rs115373018
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.57C>T (p.Pro19=) rs112408790
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.670A>C (p.Arg224=) rs3825394
NM_021625.4(TRPV4):c.789T>C (p.Asp263=) rs3742034
NM_021625.4(TRPV4):c.795C>T (p.His265=) rs1344554
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.81T>C (p.Gly27=) rs34599967
NM_021625.4(TRPV4):c.854-5C>T rs116401333
NM_021625.5(TRPV4):c.1333-16A>C
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) rs17109261
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) rs78120278
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) rs80227512
NM_024577.4(SH3TC2):c.151+15_151+16del
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3794-20C>T rs116966215
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030973.3(MED25):c.-12A>G rs114843375
NM_030973.3(MED25):c.1482+19G>A rs4802632
NM_030973.3(MED25):c.1483-7C>T rs2017698
NM_030973.3(MED25):c.165G>A (p.Thr55=) rs77400039
NM_030973.3(MED25):c.1674+19C>T rs752522
NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) rs193291405
NM_030973.3(MED25):c.1794C>T (p.Ala598=) rs185100172
NM_030973.3(MED25):c.2031G>A (p.Ala677=) rs57854058
NM_030973.3(MED25):c.2088G>A (p.Leu696=) rs371157406
NM_030973.3(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.4(MED25):c.1101+24_1101+42dup
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.1422+42_1422+43del
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) rs34768188
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.750+33G>A rs2250267
NM_138361.5(LRSAM1):c.903+38T>C rs1539569
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1339-12C>T rs73083501
NM_139241.3(FGD4):c.1515T>C (p.Ser505=) rs60803891
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1636-7T>C rs11052113
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) rs904582
NM_139241.3(FGD4):c.435C>T (p.Asp145=) rs904582
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.993+8G>A rs12823621
NM_170707.4(LMNA):c.1157+16G>A rs534807
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_181882.3(PRX):c.1836C>A (p.Ala612=)
NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) rs139624657

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