ClinVar Miner

List of variants in gene TPM1 reported as uncertain significance for Hypertrophic cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00010
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) rs149659674 0.00009
NM_001018005.2(TPM1):c.-48C>T rs747523720 0.00003
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001018005.2(TPM1):c.841A>G (p.Met281Val) rs397516394 0.00002
NM_001018005.2(TPM1):c.104G>C (p.Arg35Thr) rs730881152 0.00001
NM_001018005.2(TPM1):c.105G>C (p.Arg35Ser) rs1448738061 0.00001
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly) rs1566936237 0.00001
NM_001018005.2(TPM1):c.114+3C>T rs112677344 0.00001
NM_001018005.2(TPM1):c.114+4T>C rs745777320 0.00001
NM_001018005.2(TPM1):c.115-5C>G rs753196985 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.302G>A (p.Arg101His) rs747907799 0.00001
NM_001018005.2(TPM1):c.314G>A (p.Arg105His) rs773149185 0.00001
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val) rs774903903 0.00001
NM_001018005.2(TPM1):c.564-9A>G rs755689022 0.00001
NM_001018005.2(TPM1):c.630G>T (p.Gln210His) rs761816813 0.00001
NM_001018005.2(TPM1):c.646C>G (p.Gln216Glu) rs1265700466 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.673A>G (p.Ile225Val) rs193922410 0.00001
NM_001018005.2(TPM1):c.703-3C>T rs796682308 0.00001
NM_001018005.2(TPM1):c.755G>T (p.Ser252Ile) rs1375629623 0.00001
NM_001018005.2(TPM1):c.784G>A (p.Ala262Thr) rs758506771 0.00001
NM_001018005.2(TPM1):c.814G>A (p.Glu272Lys) rs755226348 0.00001
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn) rs397516391 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018005.2(TPM1):c.838G>A (p.Asp280Asn) rs777635889 0.00001
NC_000015.9:g.(?_63335029)_(63358098_?)del
NC_000015.9:g.(?_63351742)_(63356266_?)del
NM_001018005.2(TPM1):c.*97CT[2] rs886051321
NM_001018005.2(TPM1):c.103A>G (p.Arg35Gly) rs1596297347
NM_001018005.2(TPM1):c.104G>A (p.Arg35Lys) rs730881152
NM_001018005.2(TPM1):c.107G>A (p.Ser36Asn) rs1174194983
NM_001018005.2(TPM1):c.108C>A (p.Ser36Arg)
NM_001018005.2(TPM1):c.108C>G (p.Ser36Arg)
NM_001018005.2(TPM1):c.109A>C (p.Lys37Gln) rs199476303
NM_001018005.2(TPM1):c.109A>G (p.Lys37Glu) rs199476303
NM_001018005.2(TPM1):c.10A>G (p.Ile4Val) rs730881148
NM_001018005.2(TPM1):c.112C>G (p.Gln38Glu) rs1060501863
NM_001018005.2(TPM1):c.114+6C>G
NM_001018005.2(TPM1):c.114G>A (p.Gln38=) rs2031445986
NM_001018005.2(TPM1):c.115-3C>T
NM_001018005.2(TPM1):c.115-7C>G
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) rs104894501
NM_001018005.2(TPM1):c.140A>G (p.Gln47Arg) rs1060501864
NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile) rs1060501866
NM_001018005.2(TPM1):c.148C>T (p.Leu50Phe) rs1060501866
NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del) rs730881155
NM_001018005.2(TPM1):c.152A>G (p.Lys51Arg) rs1566937728
NM_001018005.2(TPM1):c.157A>T (p.Thr53Ser)
NM_001018005.2(TPM1):c.158C>T (p.Thr53Ile) rs2140628162
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly) rs1566937759
NM_001018005.2(TPM1):c.167A>G (p.Glu56Gly)
NM_001018005.2(TPM1):c.170T>C (p.Leu57Pro)
NM_001018005.2(TPM1):c.172G>C (p.Asp58His) rs199476304
NM_001018005.2(TPM1):c.178T>C (p.Tyr60His) rs2031862156
NM_001018005.2(TPM1):c.179dup (p.Tyr60Ter)
NM_001018005.2(TPM1):c.181T>C (p.Ser61Pro) rs2031863016
NM_001018005.2(TPM1):c.182C>G (p.Ser61Cys) rs2031863455
NM_001018005.2(TPM1):c.187G>A (p.Ala63Thr) rs1064796782
NM_001018005.2(TPM1):c.196G>A (p.Asp66Asn) rs2031866819
NM_001018005.2(TPM1):c.196G>C (p.Asp66His) rs2031866819
NM_001018005.2(TPM1):c.200C>A (p.Ala67Asp) rs2031867397
NM_001018005.2(TPM1):c.203A>G (p.Gln68Arg) rs2140629082
NM_001018005.2(TPM1):c.209A>C (p.Lys70Thr) rs199476307
NM_001018005.2(TPM1):c.209A>G (p.Lys70Arg) rs199476307
NM_001018005.2(TPM1):c.211C>G (p.Leu71Val) rs730881143
NM_001018005.2(TPM1):c.214G>A (p.Glu72Lys) rs1566937844
NM_001018005.2(TPM1):c.214G>T (p.Glu72Ter)
NM_001018005.2(TPM1):c.215A>G (p.Glu72Gly) rs1358909905
NM_001018005.2(TPM1):c.221C>T (p.Ala74Val)
NM_001018005.2(TPM1):c.226A>G (p.Lys76Glu) rs1555403432
NM_001018005.2(TPM1):c.22A>G (p.Met8Val)
NM_001018005.2(TPM1):c.230A>G (p.Lys77Arg) rs2140629423
NM_001018005.2(TPM1):c.236C>T (p.Thr79Ile) rs2031873302
NM_001018005.2(TPM1):c.238G>A (p.Asp80Asn)
NM_001018005.2(TPM1):c.239A>G (p.Asp80Gly) rs2031873696
NM_001018005.2(TPM1):c.23T>A (p.Met8Lys) rs397516364
NM_001018005.2(TPM1):c.23T>C (p.Met8Thr)
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.240+2dup
NM_001018005.2(TPM1):c.240+3A>G rs1555403436
NM_001018005.2(TPM1):c.240+8C>T
NM_001018005.2(TPM1):c.241G>A (p.Ala81Thr)
NM_001018005.2(TPM1):c.242C>T (p.Ala81Val) rs1596360642
NM_001018005.2(TPM1):c.24_25delinsAA (p.Met8_Gln9delinsIleLys)
NM_001018005.2(TPM1):c.251A>T (p.Asp84Val) rs2034909771
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu) rs369617788
NM_001018005.2(TPM1):c.253G>A (p.Val85Ile) rs730881156
NM_001018005.2(TPM1):c.253G>T (p.Val85Leu) rs730881156
NM_001018005.2(TPM1):c.257C>T (p.Ala86Val) rs757577112
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val) rs1555407795
NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys) rs1085307487
NM_001018005.2(TPM1):c.269G>A (p.Arg90Lys) rs1596360823
NM_001018005.2(TPM1):c.26A>G (p.Gln9Arg) rs1555402931
NM_001018005.2(TPM1):c.26A>T (p.Gln9Leu) rs1555402931
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.283G>A (p.Val95Ile)
NM_001018005.2(TPM1):c.283G>C (p.Val95Leu) rs2140907954
NM_001018005.2(TPM1):c.287A>G (p.Glu96Gly) rs2140907992
NM_001018005.2(TPM1):c.2T>C (p.Met1Thr) rs1475635564
NM_001018005.2(TPM1):c.301C>T (p.Arg101Cys)
NM_001018005.2(TPM1):c.30G>A (p.Met10Ile)
NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln) rs1596361132
NM_001018005.2(TPM1):c.313C>T (p.Arg105Cys)
NM_001018005.2(TPM1):c.316C>A (p.Leu106Met)
NM_001018005.2(TPM1):c.326C>T (p.Ala109Val)
NM_001018005.2(TPM1):c.331C>G (p.Gln111Glu)
NM_001018005.2(TPM1):c.331C>T (p.Gln111Ter) rs2034924162
NM_001018005.2(TPM1):c.332A>G (p.Gln111Arg) rs2034924462
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.350A>G (p.Glu117Gly) rs2140908958
NM_001018005.2(TPM1):c.371A>G (p.Glu124Gly)
NM_001018005.2(TPM1):c.377G>C (p.Gly126Ala)
NM_001018005.2(TPM1):c.377G>T (p.Gly126Val) rs1566962034
NM_001018005.2(TPM1):c.384A>C (p.Lys128Asn)
NM_001018005.2(TPM1):c.385G>T (p.Val129Phe) rs2140937065
NM_001018005.2(TPM1):c.403C>G (p.Gln135Glu) rs11558749
NM_001018005.2(TPM1):c.408_410del (p.Lys136_Asp137delinsAsn) rs1064797199
NM_001018005.2(TPM1):c.410A>T (p.Asp137Val) rs730881134
NM_001018005.2(TPM1):c.413A>C (p.Glu138Ala) rs786204410
NM_001018005.2(TPM1):c.416A>G (p.Glu139Gly) rs727504389
NM_001018005.2(TPM1):c.421A>G (p.Met141Val) rs2035311298
NM_001018005.2(TPM1):c.428T>G (p.Ile143Ser) rs730881136
NM_001018005.2(TPM1):c.431A>G (p.Gln144Arg) rs1566962338
NM_001018005.2(TPM1):c.433G>C (p.Glu145Gln) rs2140937964
NM_001018005.2(TPM1):c.434A>C (p.Glu145Ala) rs2140937995
NM_001018005.2(TPM1):c.437T>G (p.Ile146Ser) rs2035315481
NM_001018005.2(TPM1):c.438C>G (p.Ile146Met) rs1460142862
NM_001018005.2(TPM1):c.439C>T (p.Gln147Ter) rs2140938088
NM_001018005.2(TPM1):c.43A>G (p.Lys15Glu)
NM_001018005.2(TPM1):c.454A>G (p.Lys152Glu)
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.462T>G (p.Ile154Met) rs2140938472
NM_001018005.2(TPM1):c.469G>A (p.Asp157Asn)
NM_001018005.2(TPM1):c.469G>T (p.Asp157Tyr)
NM_001018005.2(TPM1):c.46G>A (p.Glu16Lys) rs727504290
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.492+3C>G rs1225074580
NM_001018005.2(TPM1):c.499dup (p.Arg167fs) rs1596377768
NM_001018005.2(TPM1):c.4G>C (p.Asp2His) rs1060501865
NM_001018005.2(TPM1):c.505C>G (p.Leu169Val)
NM_001018005.2(TPM1):c.508G>A (p.Val170Ile) rs1555409095
NM_001018005.2(TPM1):c.511A>C (p.Ile171Leu) rs774903903
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.516T>G (p.Ile172Met) rs730881138
NM_001018005.2(TPM1):c.51C>G (p.Asn17Lys) rs878854150
NM_001018005.2(TPM1):c.523G>T (p.Asp175Tyr)
NM_001018005.2(TPM1):c.526C>G (p.Leu176Val)
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.538G>C (p.Glu180Gln) rs1555409132
NM_001018005.2(TPM1):c.53C>A (p.Ala18Asp) rs730881150
NM_001018005.2(TPM1):c.53C>T (p.Ala18Val) rs730881150
NM_001018005.2(TPM1):c.552G>T (p.Glu184Asp)
NM_001018005.2(TPM1):c.560A>G (p.Glu187Gly)
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) rs786204411
NM_001018005.2(TPM1):c.562G>A (p.Gly188Ser) rs2035531508
NM_001018005.2(TPM1):c.563+3A>G
NM_001018005.2(TPM1):c.563+6C>A rs397516378
NM_001018005.2(TPM1):c.563+6C>G rs397516378
NM_001018005.2(TPM1):c.572_573delinsTT (p.Ala191Val) rs730881154
NM_001018005.2(TPM1):c.583G>A (p.Glu195Lys) rs1555409508
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter) rs1131003
NM_001018005.2(TPM1):c.58G>A (p.Asp20Asn) rs727504391
NM_001018005.2(TPM1):c.590T>C (p.Leu197Ser)
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp) rs1555409523
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.625G>C (p.Ala209Pro) rs730881159
NM_001018005.2(TPM1):c.625G>T (p.Ala209Ser) rs730881159
NM_001018005.2(TPM1):c.629A>G (p.Gln210Arg) rs777139450
NM_001018005.2(TPM1):c.632C>T (p.Ala211Val) rs397516487
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val) rs769951937
NM_001018005.2(TPM1):c.639G>A (p.Lys213=)
NM_001018005.2(TPM1):c.647A>G (p.Gln216Arg) rs2140969414
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.656A>G (p.Asp219Gly) rs2140969490
NM_001018005.2(TPM1):c.65C>T (p.Ala22Val) rs2031431973
NM_001018005.2(TPM1):c.662A>G (p.Tyr221Cys)
NM_001018005.2(TPM1):c.677A>G (p.Lys226Arg) rs730881144
NM_001018005.2(TPM1):c.679G>T (p.Val227Phe) rs1368991319
NM_001018005.2(TPM1):c.67G>C (p.Glu23Gln) rs199476302
NM_001018005.2(TPM1):c.68A>C (p.Glu23Ala) rs2140595470
NM_001018005.2(TPM1):c.702+4A>G rs730881145
NM_001018005.2(TPM1):c.702+5T>C rs2140970259
NM_001018005.2(TPM1):c.702+6A>G
NM_001018005.2(TPM1):c.70C>T (p.Gln24Ter)
NM_001018005.2(TPM1):c.713G>A (p.Arg238Gln) rs777716347
NM_001018005.2(TPM1):c.713G>T (p.Arg238Leu) rs777716347
NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr) rs199476318
NM_001018005.2(TPM1):c.736G>A (p.Val246Ile) rs1596386599
NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr) rs730881160
NM_001018005.2(TPM1):c.74C>T (p.Ala25Val) rs2031433815
NM_001018005.2(TPM1):c.751A>G (p.Lys251Glu) rs2035793563
NM_001018005.2(TPM1):c.755G>C (p.Ser252Thr) rs1375629623
NM_001018005.2(TPM1):c.760G>A (p.Asp254Asn)
NM_001018005.2(TPM1):c.762T>A (p.Asp254Glu) rs727504354
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu) rs727504354
NM_001018005.2(TPM1):c.76G>A (p.Glu26Lys) rs2140595656
NM_001018005.2(TPM1):c.772+10_772+11insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAGGTAAGATCTT
NM_001018005.2(TPM1):c.772+9T>G
NM_001018005.2(TPM1):c.773A>G (p.Asp258Gly)
NM_001018005.2(TPM1):c.775G>A (p.Glu259Lys) rs397516389
NM_001018005.2(TPM1):c.775G>C (p.Glu259Gln) rs397516389
NM_001018005.2(TPM1):c.777G>T (p.Glu259Asp) rs2035997247
NM_001018005.2(TPM1):c.787C>G (p.Gln263Glu) rs730881147
NM_001018005.2(TPM1):c.790A>G (p.Lys264Glu) rs397516390
NM_001018005.2(TPM1):c.803A>C (p.Lys268Thr) rs1395706088
NM_001018005.2(TPM1):c.806C>T (p.Ala269Val) rs1342749492
NM_001018005.2(TPM1):c.808A>G (p.Ile270Val) rs1555410445
NM_001018005.2(TPM1):c.810C>G (p.Ile270Met)
NM_001018005.2(TPM1):c.813C>G (p.Ser271Arg)
NM_001018005.2(TPM1):c.815A>C (p.Glu272Ala) rs727503519
NM_001018005.2(TPM1):c.817G>A (p.Glu273Lys)
NM_001018005.2(TPM1):c.820C>A (p.Leu274Met) rs2140992377
NM_001018005.2(TPM1):c.823G>C (p.Asp275His) rs2036002326
NM_001018005.2(TPM1):c.826C>A (p.His276Asn) rs2140992472
NM_001018005.2(TPM1):c.826C>G (p.His276Asp) rs2140992472
NM_001018005.2(TPM1):c.82G>T (p.Asp28Tyr) rs397516391
NM_001018005.2(TPM1):c.830C>T (p.Ala277Val) rs199476320
NM_001018005.2(TPM1):c.832C>T (p.Leu278Phe) rs730881161
NM_001018005.2(TPM1):c.838G>C (p.Asp280His) rs777635889
NM_001018005.2(TPM1):c.846T>G (p.Thr282=)
NM_001018005.2(TPM1):c.851+5dup rs2036008903
NM_001018005.2(TPM1):c.851+6C>A rs375043184
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr) rs745520822
NM_001018005.2(TPM1):c.852-5C>A
NM_001018005.2(TPM1):c.852A>C (p.Ile284=) rs759481997
NM_001018005.2(TPM1):c.852A>G (p.Ile284Met)
NM_001018005.2(TPM1):c.852A>T (p.Ile284=) rs759481997
NM_001018005.2(TPM1):c.88_89delinsGC (p.Lys30Ala) rs1555402999
NM_001018005.2(TPM1):c.8C>T (p.Ala3Val)
NM_001018005.2(TPM1):c.94_95delinsTT (p.Ala32Leu) rs2031440279
NM_001018005.2(TPM1):c.97G>A (p.Glu33Lys) rs397516397
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444

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