ClinVar Miner

List of variants studied for Left ventricular noncompaction cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_000257.4(MYH7):c.-36C>T rs45497293 0.01123
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NC_000014.9:g.23408281C>T rs142094404 0.00318
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00094
NM_001267550.2(TTN):c.2775+4G>A rs548681281 0.00086
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_005159.4(ACTC1):c.*983C>T rs549986676 0.00035
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00016
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000257.4(MYH7):c.5071G>A (p.Val1691Met) rs45464193 0.00011
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) rs140037748 0.00011
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932 0.00009
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg) rs201983087 0.00008
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr) rs886048378 0.00006
NM_000257.4(MYH7):c.1179C>T (p.Ala393=) rs143293426 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00006
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val) rs56385445 0.00006
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) rs140246538 0.00005
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys) rs760516307 0.00005
NM_007078.3(LDB3):c.897-6665C>T rs549156118 0.00005
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) rs375007425 0.00004
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) rs768393069 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_001276345.2(TNNT2):c.720-5T>G rs730881092 0.00004
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517 0.00004
NM_005159.4(ACTC1):c.*1318T>G rs759530643 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val) rs886045828 0.00003
NM_001386795.1(DTNA):c.1743+3929_1743+3931del rs886053780 0.00003
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_004100.5(EYA4):c.971-3T>C rs377224718 0.00002
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084 0.00002
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys) rs869025393 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_013266.4(CTNNA3):c.622C>T (p.Arg208Ter) rs755323657 0.00002
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 0.00001
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val) rs730880530 0.00001
NM_000257.4(MYH7):c.1000-13G>T rs772831757 0.00001
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.1139-4C>T rs886050422 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.2922+6G>C rs781192476 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) rs886050419 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) rs753115999 0.00001
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg) rs730880156 0.00001
NM_000335.5(SCN5A):c.5668C>G (p.Pro1890Ala) rs730880208 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_001018005.2(TPM1):c.852-4G>A rs374970923 0.00001
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp) rs727504943 0.00001
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter) rs1477669354 0.00001
NM_001276345.2(TNNT2):c.233+6T>C rs397516449 0.00001
NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr) rs773266937 0.00001
NM_001386795.1(DTNA):c.54G>A (p.Leu18=) rs754265551 0.00001
NM_001943.5(DSG2):c.2001+3C>G rs746471051 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_005159.4(ACTC1):c.*1090A>G rs886051070 0.00001
NM_005159.4(ACTC1):c.-109C>A rs886051097 0.00001
NM_005188.4(CBL):c.805A>G (p.Met269Val) rs372452974 0.00001
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val) rs1454748709 0.00001
NM_007078.3(LDB3):c.30C>G (p.Pro10=) rs766817285 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007078.3(LDB3):c.778G>A (p.Ala260Thr) rs777637914 0.00001
NM_020433.5(JPH2):c.1540G>A (p.Gly514Ser) rs869025442 0.00001
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys) rs730880253 0.00001
NM_020778.5(ALPK3):c.2600T>A (p.Met867Lys) rs376587216 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.355G>A (p.Val119Met) rs1603377936
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.-119=
NM_000256.3(MYBPC3):c.*163C>A rs886048366
NM_000256.3(MYBPC3):c.*230del rs376645369
NM_000256.3(MYBPC3):c.*26+3A>G rs886048369
NM_000256.3(MYBPC3):c.*327C>A rs886048364
NM_000256.3(MYBPC3):c.*95G>T rs886048368
NM_000256.3(MYBPC3):c.1458-9C>T rs886048379
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) rs1595843553
NM_000256.3(MYBPC3):c.2603-4C>A rs886048377
NM_000256.3(MYBPC3):c.2603G>T (p.Gly868Val) rs886048376
NM_000256.3(MYBPC3):c.2622C>A (p.Thr874=) rs886048375
NM_000256.3(MYBPC3):c.2639A>C (p.Asp880Ala) rs886048374
NM_000256.3(MYBPC3):c.2854C>G (p.Pro952Ala) rs554694434
NM_000256.3(MYBPC3):c.2892G>T (p.Val964=) rs886048372
NM_000256.3(MYBPC3):c.2905+7G>C rs886048371
NM_000256.3(MYBPC3):c.3627+6G>T rs886048370
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.927-7G>T rs886048381
NM_000257.4(MYH7):c.-39C>A rs886050424
NM_000257.4(MYH7):c.-47G>T rs886050425
NM_000257.4(MYH7):c.1030G>C (p.Glu344Gln) rs730880862
NM_000257.4(MYH7):c.1048T>A (p.Tyr350Asn) rs730880863
NM_000257.4(MYH7):c.1138+7G>A rs886050423
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp) rs727503266
NM_000257.4(MYH7):c.1396G>A (p.Glu466Lys) rs4981473
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1671G>T (p.Leu557=) rs149386750
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg) rs886050421
NM_000257.4(MYH7):c.2955G>A (p.Leu985=) rs886050420
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) rs753137666
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=) rs730880767
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro) rs397516195
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) rs879196018
NM_000257.4(MYH7):c.475G>A (p.Asp159Asn) rs730880155
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys) rs730880810
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) rs886050416
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) rs886050415
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.5735T>A (p.Ile1912Asn) rs1595070419
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp) rs397515482
NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys) rs587782961
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.2176_2177dup (p.Ile727fs) rs869025523
NM_001005242.3(PKP2):c.1068_1069dup (p.Val357fs) rs2137919964
NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del) rs1270283587
NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del) rs730881155
NM_001018005.2(TPM1):c.257C>T (p.Ala86Val) rs757577112
NM_001018005.2(TPM1):c.44A>G (p.Lys15Arg) rs869025539
NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met) rs730880199
NM_001103.4(ACTN2):c.2416C>T (p.Gln806Ter) rs772733279
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.11657del (p.Asp3886fs) rs397517826
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter) rs869025544
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.66975_66978del (p.Lys22326fs) rs587782986
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter) rs1575799625
NM_001276345.2(TNNT2):c.-1C>A rs776936911
NM_001276345.2(TNNT2):c.-22G>C rs886045829
NM_001276345.2(TNNT2):c.-22G>T rs886045829
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.665T>A (p.Leu222Gln) rs750800588
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001386795.1(DTNA):c.1743+2825dup rs778058745
NM_001386795.1(DTNA):c.1743+4108del rs34776092
NM_001386795.1(DTNA):c.1743+4379dup rs886053782
NM_002880.4(RAF1):c.806C>T (p.Thr269Ile) rs2058951328
NM_003280.3(TNNC1):c.212C>T (p.Thr71Met) rs1706331809
NM_005159.4(ACTC1):c.*1062G>A rs886051072
NM_005159.4(ACTC1):c.*1070A>C rs886051071
NM_005159.4(ACTC1):c.*1115A>T rs886051069
NM_005159.4(ACTC1):c.*1482G>T rs886051066
NM_005159.4(ACTC1):c.*1502G>T rs886051065
NM_005159.4(ACTC1):c.*1753G>T rs886051064
NM_005159.4(ACTC1):c.*1797C>A rs886051063
NM_005159.4(ACTC1):c.*2168G>T rs886051061
NM_005159.4(ACTC1):c.*224G>C rs551820554
NM_005159.4(ACTC1):c.*247G>A rs886051088
NM_005159.4(ACTC1):c.*284G>A rs886051087
NM_005159.4(ACTC1):c.*307T>A rs886051086
NM_005159.4(ACTC1):c.*422T>A rs886051084
NM_005159.4(ACTC1):c.*561C>A rs886051083
NM_005159.4(ACTC1):c.*643C>A rs886051081
NM_005159.4(ACTC1):c.*646C>A rs886051080
NM_005159.4(ACTC1):c.*674C>A rs886051079
NM_005159.4(ACTC1):c.*708G>T rs886051077
NM_005159.4(ACTC1):c.*739G>T rs886051076
NM_005159.4(ACTC1):c.*775C>A rs886051075
NM_005159.4(ACTC1):c.*935G>T rs766542832
NM_005159.4(ACTC1):c.-101G>T rs886051095
NM_005159.4(ACTC1):c.-105C>A rs886051096
NM_005159.4(ACTC1):c.-175C>A rs886051098
NM_005159.4(ACTC1):c.-194C>A rs886051099
NM_005159.5(ACTC1):c.-55C>A rs886051093
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys) rs869025353
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.978C>A (p.Thr326=) rs886051089
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411
NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu) rs2151217037
NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp) rs1384829419
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_007078.3(LDB3):c.896+6957G>A rs886047354
NM_007078.3(LDB3):c.897-6525T>C rs886047356
NM_007078.3(LDB3):c.897-6707G>A rs537660741
NM_013266.4(CTNNA3):c.2588del (p.Lys863fs) rs730880073
NM_022114.4(PRDM16):c.1110C>A (p.Asp370Glu) rs777550737
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs) rs886041395
NM_022114.4(PRDM16):c.1627C>T (p.Gln543Ter) rs2100662912
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) rs397514742
NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs) rs869025492
NM_144573.4(NEXN):c.1878dup (p.Asp627fs) rs2102181621

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