ClinVar Miner

Variants with conflicting interpretations "likely benign" from Biesecker Lab/Clinical Genomics Section, National Institutes of Health and "benign" from any submitter

Minimum review status of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health: Collection method of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 240
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282 0.00735
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) rs78535378 0.00334
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285 0.00224
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829 0.00200
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126 0.00197
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) rs141856443 0.00158
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) rs200815663 0.00154
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) rs201797790 0.00125
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00093
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_000238.4(KCNH2):c.2398+178C>T rs41314366 0.00080
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro) rs139172299 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val) rs150379637 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_201596.3(CACNB2):c.209G>A (p.Arg70His) rs150722502 0.00063
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) rs200765866 0.00058
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00049
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419 0.00044
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) rs147512481 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00038
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) rs199761901 0.00037
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) rs367857951 0.00024
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000238.4(KCNH2):c.2398+16C>T rs201873431 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565 0.00014
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) rs142478636 0.00012
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys) rs144690298 0.00006
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862

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