ClinVar Miner

List of variants reported as benign for familial restrictive cardiomyopathy

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_006206.6(PDGFRA):c.3222T>C (p.Asp1074=) rs7685117 0.99715
NM_006206.6(PDGFRA):c.*1511C>A rs1565664 0.99713
NM_006206.6(PDGFRA):c.*78A>G rs7680422 0.99696
NM_006206.6(PDGFRA):c.*2387T>G rs10034498 0.98684
NM_032578.4(MYPN):c.2886T>C (p.Val962=) rs10733838 0.98443
NM_032578.4(MYPN):c.2703+17T>C rs6480306 0.98057
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=) rs1873778 0.96449
NM_000157.4(GBA1):c.1225-34C>A rs3115534 0.94932
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_001276345.2(TNNT2):c.163+120T>C rs3729842 0.84150
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.80041
NM_001276345.2(TNNT2):c.601-32A>C rs1104859 0.73965
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72004
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_000152.5(GAA):c.1551+49C>A rs2304843 0.66585
NM_000203.5(IDUA):c.299+3990A>G rs3822020 0.66105
NM_000152.5(GAA):c.547-39T>G rs12452721 0.65696
NM_000152.5(GAA):c.547-67C>G rs8069491 0.65691
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.1438-19G>C rs2304844 0.65495
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.1438-108G>A rs12944802 0.65436
NM_000152.5(GAA):c.858+30T>C rs2304845 0.65092
NM_032578.4(MYPN):c.3286-28G>T rs7079549 0.64847
NM_032578.4(MYPN):c.2565-21A>G rs7097776 0.64504
NM_001100.4(ACTA1):c.-65T>C rs605430 0.63378
NM_001100.4(ACTA1):c.-66C>T rs605428 0.63361
NM_000152.5(GAA):c.1754+144C>T rs2304838 0.60815
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_032578.4(MYPN):c.1647T>C (p.Ser549=) rs2673794 0.57747
NM_000152.5(GAA):c.1637-185A>G rs12951255 0.55461
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_017950.4(CCDC40):c.*149T>C rs2304852 0.48973
NM_032578.4(MYPN):c.3075+21G>A rs7081213 0.41962
NM_000157.4(GBA1):c.454+47G>A rs2075569 0.41024
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_017950.4(CCDC40):c.*186A>C rs2304851 0.38175
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805 0.35335
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_032578.4(MYPN):c.1130+17G>A rs2817760 0.26147
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_000152.5(GAA):c.*223C>T rs8132 0.22255
NM_001276345.2(TNNT2):c.811-122C>G rs45509695 0.22049
NM_001276345.2(TNNT2):c.811-33C>T rs2275863 0.22049
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=) rs2228230 0.20293
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000152.5(GAA):c.*419G>T rs7567 0.19631
NM_005266.7(GJA5):c.-61A>G rs11552588 0.18395
NM_006206.6(PDGFRA):c.612T>C (p.Asn204=) rs2229307 0.17867
NM_006206.6(PDGFRA):c.939T>G (p.Gly313=) rs4358459 0.17704
NM_006206.6(PDGFRA):c.1809G>A (p.Ala603=) rs10028020 0.17498
NM_032578.4(MYPN):c.1875C>T (p.Pro625=) rs2673793 0.17340
NM_000203.5(IDUA):c.1727+72T>G rs2305488 0.17150
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17097
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.13841
NM_032578.4(MYPN):c.1869C>A (p.Thr623=) rs61854624 0.12645
NM_000152.5(GAA):c.*91G>A rs2229221 0.12196
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_032578.4(MYPN):c.1178T>C (p.Val393Ala) rs11596653 0.11086
NM_032578.4(MYPN):c.1251G>A (p.Gln417=) rs10997948 0.10147
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_000152.5(GAA):c.693-49C>T rs78855075 0.09045
NM_032578.4(MYPN):c.1245+17G>A rs2200897 0.09036
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_000152.5(GAA):c.2040+66C>T rs2304835 0.06422
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06396
NM_006206.6(PDGFRA):c.*832T>C rs12511976 0.06370
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_000152.5(GAA):c.2040+69A>G rs2304834 0.06120
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_000152.5(GAA):c.1636+43G>T rs2304842 0.05728
NM_000152.5(GAA):c.*3G>A rs1800317 0.05534
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000152.5(GAA):c.1888+21G>A rs2304837 0.05276
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys) rs74143030 0.04308
NM_032578.4(MYPN):c.2163C>A (p.Ala721=) rs71584491 0.04239
NM_000152.5(GAA):c.1754+104C>G rs2304839 0.04194
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000152.5(GAA):c.2189+95C>T rs72850840 0.04030
NM_032578.4(MYPN):c.843A>G (p.Pro281=) rs74143022 0.03534
NM_006206.6(PDGFRA):c.932-4A>G rs78405886 0.03447
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_001276345.2(TNNT2):c.610-90G>A rs11810834 0.03251
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000371.4(TTR):c.*21C>A rs12226 0.02158
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_032578.4(MYPN):c.2886= (p.Val962=) rs10733838 0.01557
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_006206.6(PDGFRA):c.*1429C>T rs56288633 0.01364
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_000371.3(TTR):c.*345G>A rs58172837 0.01182
NM_032578.4(MYPN):c.3279C>T (p.Asp1093=) rs115033934 0.01152
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_006206.6(PDGFRA):c.*2504C>T rs149631103 0.00967
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00924
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_032578.4(MYPN):c.-2+9C>T rs75716608 0.00900
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001276345.2(TNNT2):c.610-81C>T rs28730745 0.00831
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_032578.4(MYPN):c.1600+21G>C rs41278498 0.00739
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_006206.6(PDGFRA):c.1320G>A (p.Thr440=) rs56026726 0.00722
NM_006206.6(PDGFRA):c.672G>A (p.Val224=) rs151259376 0.00707
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001276345.2(TNNT2):c.200-29C>G rs45449197 0.00690
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_181703.4(GJA5):c.369C>T (p.Tyr123=) rs2232191 0.00582
NM_032578.4(MYPN):c.3493+11C>T rs113674647 0.00520
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_006206.6(PDGFRA):c.*2559G>A rs138584193 0.00503
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_006206.6(PDGFRA):c.201C>T (p.Ser67=) rs35805947 0.00429
NM_032578.4(MYPN):c.3078G>A (p.Gly1026=) rs114479328 0.00385
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=) rs138519829 0.00372
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001276345.2(TNNT2):c.53-47C>G rs45553832 0.00345
NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr) rs150404143 0.00321
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_006206.5(PDGFRA):c.-170C>T rs183431225 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) rs147287437 0.00225
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg) rs147659164 0.00222
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_006206.6(PDGFRA):c.996C>T (p.Val332=) rs142498442 0.00204
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=) rs77249928 0.00189
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00157
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_006206.6(PDGFRA):c.*51G>A rs141346675 0.00148
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_001276345.2(TNNT2):c.68-5C>T rs540630390 0.00133
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_006206.5(PDGFRA):c.-284G>A rs145549583 0.00121
NM_006206.6(PDGFRA):c.*2336T>C rs574665425 0.00121
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_181703.4(GJA5):c.726G>A (p.Arg242=) rs150432230 0.00109
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_032578.4(MYPN):c.1122G>A (p.Glu374=) rs145103325 0.00101
NM_032578.4(MYPN):c.465C>G (p.Ala155=) rs142867001 0.00099
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_006206.6(PDGFRA):c.*2538G>A rs377126983 0.00095
NM_006206.6(PDGFRA):c.*2873C>T rs147418921 0.00087
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_000152.5(GAA):c.1755-18T>C rs201399518 0.00082
NM_006206.6(PDGFRA):c.*2546A>G rs112690644 0.00081
NM_006206.6(PDGFRA):c.3228C>T (p.Ile1076=) rs148629782 0.00076
NM_001276345.2(TNNT2):c.98-81G>A rs45576939 0.00067
NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=) rs55996208 0.00064
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_006206.6(PDGFRA):c.*39C>T rs55681376 0.00055
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480 0.00031
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=) rs140725151 0.00030
NM_001276345.2(TNNT2):c.41+16A>G rs370729174 0.00029
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_006206.6(PDGFRA):c.*1561T>C rs145328998 0.00025
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=) rs55966236 0.00024
NM_000371.3(TTR):c.*191C>T rs556327750 0.00023
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_006206.6(PDGFRA):c.*691G>A rs117287047 0.00020
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000152.5(GAA):c.2799+19G>A rs558187268 0.00016
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915 0.00015
NM_181703.4(GJA5):c.472C>T (p.Leu158=) rs782668682 0.00013
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_001276345.2(TNNT2):c.295-19C>T rs587780969 0.00009
NM_006206.6(PDGFRA):c.*479C>A rs117886200 0.00008
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_032578.4(MYPN):c.660G>A (p.Arg220=) rs372218308 0.00007
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.858+24G>C rs770608668 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=) rs200283086 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_006206.6(PDGFRA):c.*2465A>G rs78148538 0.00006
NM_032578.4(MYPN):c.3456C>T (p.Thr1152=) rs202183926 0.00005
NM_001276345.2(TNNT2):c.52+13G>A rs376820377 0.00004
NM_006206.6(PDGFRA):c.*1939T>C rs368579295 0.00004
NM_006206.6(PDGFRA):c.*2256G>T rs544503522 0.00004
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met) rs149031291 0.00004
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) rs138150216 0.00004
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 0.00003
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser) rs199902153 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_032578.4(MYPN):c.2704-17G>A rs367814057 0.00002
NM_032578.4(MYPN):c.3768G>A (p.Ser1256=) rs533708375 0.00002
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=) rs483352833 0.00001
NM_006206.6(PDGFRA):c.*793C>T rs557191329 0.00001
NM_032578.4(MYPN):c.2703+17_2703+19del rs554680048 0.00001
NM_032578.4(MYPN):c.2703+20A>C rs558377291 0.00001
NM_032578.4(MYPN):c.3075+20C>T rs377273417 0.00001
NM_032578.4(MYPN):c.951C>A (p.Ile317=) rs759998419 0.00001
NC_000001.11:g.147760632=
NM_000152.5(GAA):c.1194+11del rs2143856264
NM_000152.5(GAA):c.1326+12del
NM_000152.5(GAA):c.1377C>T (p.Asp459=) rs778121058
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1551+15del
NM_000152.5(GAA):c.1637-12dup
NM_000152.5(GAA):c.2041-14del
NM_000152.5(GAA):c.2041-14dup
NM_000152.5(GAA):c.2331+48C>A rs2143921034
NM_000152.5(GAA):c.2647-71G>C rs4889821
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.973-45G>C rs6831021
NM_000371.4(TTR):c.-743A>T rs3794885
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.372C>G (p.Arg124=) rs780119793
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_001276345.2(TNNT2):c.164-50G>A rs3729843
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.351G>A (p.Glu117=) rs1659436211
NM_001276345.2(TNNT2):c.412-6_412-4del rs397516462
NM_001276345.2(TNNT2):c.412-94del rs35559054
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) rs74315379
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.811-8del
NM_006206.6(PDGFRA):c.*1110_*1111del rs34529347
NM_006206.6(PDGFRA):c.*1137G>A rs55710909
NM_006206.6(PDGFRA):c.*374A>C rs3690
NM_006206.6(PDGFRA):c.-106AG[1] rs1799767
NM_006206.6(PDGFRA):c.3228C>G (p.Ile1076Met) rs148629782
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg) rs3814182
NM_032578.4(MYPN):c.3417C>G (p.Arg1139=) rs144488384
NM_032578.4(MYPN):c.3493+15_3493+20del rs11279655

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