ClinVar Miner

List of variants in gene TPM1 studied for Cardiomyopathy

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_001018005.2(TPM1):c.115-262C>T rs74573041 0.00079
NM_001018005.2(TPM1):c.115-319C>G rs201720832 0.00070
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001018005.2(TPM1):c.115-331C>T rs562829514 0.00041
NM_001018005.2(TPM1):c.177A>G (p.Lys59=) rs149346709 0.00031
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001018005.2(TPM1):c.851+6C>T rs375043184 0.00029
NM_001018005.2(TPM1):c.115-214C>G rs947201175 0.00021
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00015
NM_001018020.2(TPM1):c.835C>T (p.Leu279=) rs374434837 0.00013
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00010
NM_001018004.2(TPM1):c.773-1187G>A rs144451403 0.00009
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) rs149659674 0.00009
NM_001018005.2(TPM1):c.564-11G>A rs532254032 0.00007
NM_001018004.2(TPM1):c.773-1148A>C rs139159081 0.00006
NM_001018005.2(TPM1):c.115-335G>T rs587780971 0.00006
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018005.2(TPM1):c.563+267G>A rs141757680 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001018004.2(TPM1):c.773-1153G>A rs772871597 0.00004
NM_001018005.2(TPM1):c.249C>T (p.Ala83=) rs200257214 0.00004
NM_001018005.2(TPM1):c.687C>T (p.Ser229=) rs759362606 0.00004
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=) rs751001221 0.00004
NM_001018005.2(TPM1):c.851+7G>A rs765721221 0.00004
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001018005.2(TPM1):c.474C>T (p.Ala158=) rs143922069 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001018005.2(TPM1):c.549T>C (p.Ala183=) rs199476313 0.00003
NM_001018005.2(TPM1):c.564-12C>T rs113591254 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001018004.2(TPM1):c.773-1155del rs762701496 0.00002
NM_001018004.2(TPM1):c.773-1218del rs1249033660 0.00002
NM_001018005.2(TPM1):c.31C>T (p.Leu11=) rs766883758 0.00002
NM_001018005.2(TPM1):c.493-7G>A rs745830368 0.00002
NM_001018005.2(TPM1):c.564-5A>G rs550286836 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001018005.2(TPM1):c.645G>A (p.Ser215=) rs773403386 0.00002
NM_001018005.2(TPM1):c.663T>C (p.Tyr221=) rs774859181 0.00002
NM_000366.2(TPM1):c.801C>T (p.Asn267=) rs146470352 0.00001
NM_001018004.2(TPM1):c.773-1142A>C rs369978558 0.00001
NM_001018004.2(TPM1):c.773-1188C>T rs760706706 0.00001
NM_001018004.2(TPM1):c.773-1191C>T rs1170242661 0.00001
NM_001018005.2(TPM1):c.-13C>A rs1257687404 0.00001
NM_001018005.2(TPM1):c.-7C>A rs370871307 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.115-226C>T rs1367107306 0.00001
NM_001018005.2(TPM1):c.115-244G>A rs989115520 0.00001
NM_001018005.2(TPM1):c.115-261C>T rs746952638 0.00001
NM_001018005.2(TPM1):c.115-275A>T rs730881132 0.00001
NM_001018005.2(TPM1):c.115-307C>T rs771867998 0.00001
NM_001018005.2(TPM1):c.115-334C>T rs1392145197 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.138G>A (p.Leu46=) rs200509525 0.00001
NM_001018005.2(TPM1):c.241-9T>C rs377417143 0.00001
NM_001018005.2(TPM1):c.252C>T (p.Asp84=) rs369617788 0.00001
NM_001018005.2(TPM1):c.272G>A (p.Arg91His) rs1477561695 0.00001
NM_001018005.2(TPM1):c.273C>T (p.Arg91=) rs1400074860 0.00001
NM_001018005.2(TPM1):c.288G>A (p.Glu96=) rs192883939 0.00001
NM_001018005.2(TPM1):c.314G>A (p.Arg105His) rs773149185 0.00001
NM_001018005.2(TPM1):c.39C>G (p.Leu13=) rs1439080260 0.00001
NM_001018005.2(TPM1):c.438C>T (p.Ile146=) rs1460142862 0.00001
NM_001018005.2(TPM1):c.444G>C (p.Leu148=) rs376518788 0.00001
NM_001018005.2(TPM1):c.493-6C>T rs397516374 0.00001
NM_001018005.2(TPM1):c.507G>C (p.Leu169=) rs139663836 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.563+335G>A rs1238095357 0.00001
NM_001018005.2(TPM1):c.563+6C>T rs397516378 0.00001
NM_001018005.2(TPM1):c.564-9A>G rs755689022 0.00001
NM_001018005.2(TPM1):c.573C>T (p.Ala191=) rs780507307 0.00001
NM_001018005.2(TPM1):c.630G>T (p.Gln210His) rs761816813 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 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.684T>C (p.Leu228=) rs397516384 0.00001
NM_001018005.2(TPM1):c.711T>C (p.Thr237=) rs1237110600 0.00001
NM_001018005.2(TPM1):c.768A>G (p.Leu256=) rs139650306 0.00001
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433 0.00001
NM_001018005.2(TPM1):c.807C>T (p.Ala269=) rs751778912 0.00001
NM_001018005.2(TPM1):c.828C>T (p.His276=) rs368813394 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.837C>T (p.Asn279=) rs397516393 0.00001
NM_001018005.2(TPM1):c.838G>A (p.Asp280Asn) rs777635889 0.00001
NM_001018005.2(TPM1):c.840T>C (p.Asp280=) rs749271066 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018005.2(TPM1):c.852-4G>A rs374970923 0.00001
NM_001018005.2(TPM1):c.852-5C>T rs766724527 0.00001
NM_001018005.2(TPM1):c.852-7C>G rs370475599 0.00001
NM_000366.2(TPM1):c.831T>A (p.Thr277=) rs2036588544
NM_000366.2(TPM1):c.849C>T (p.Asn283=) rs1057521824
NM_000366.2(TPM1):c.854G>A (p.Ter285=) rs199538190
NM_001018004.2(TPM1):c.773-1143del rs2036513615
NM_001018004.2(TPM1):c.773-1150T>G rs2036513146
NM_001018004.2(TPM1):c.773-1167C>T rs762673645
NM_001018004.2(TPM1):c.773-1206C>G rs771167283
NM_001018004.2(TPM1):c.773-1225T>C rs2036507718
NM_001018004.2(TPM1):c.773-8C>T rs780444222
NM_001018005.2(TPM1):c.*5_*8del rs786204415
NM_001018005.2(TPM1):c.-10C>T
NM_001018005.2(TPM1):c.-12G>A
NM_001018005.2(TPM1):c.-15C>G
NM_001018005.2(TPM1):c.-7C>T
NM_001018005.2(TPM1):c.100G>A (p.Asp34Asn)
NM_001018005.2(TPM1):c.103A>C (p.Arg35=)
NM_001018005.2(TPM1):c.104G>A (p.Arg35Lys) rs730881152
NM_001018005.2(TPM1):c.106A>C (p.Ser36Arg)
NM_001018005.2(TPM1):c.112C>G (p.Gln38Glu) rs1060501863
NM_001018005.2(TPM1):c.115-192C>T rs2031774217
NM_001018005.2(TPM1):c.115-193A>C rs2031773224
NM_001018005.2(TPM1):c.115-213_115-211delinsTT rs2031765937
NM_001018005.2(TPM1):c.115-214_115-211delinsT rs2031763851
NM_001018005.2(TPM1):c.115-227G>A rs2031757347
NM_001018005.2(TPM1):c.115-266G>A rs1030977106
NM_001018005.2(TPM1):c.115-268G>C rs2031744138
NM_001018005.2(TPM1):c.115-277G>A rs1312883932
NM_001018005.2(TPM1):c.115-331C>G rs562829514
NM_001018005.2(TPM1):c.115-7C>T rs1566937651
NM_001018005.2(TPM1):c.126G>A (p.Glu42=) rs2031852609
NM_001018005.2(TPM1):c.144G>A (p.Lys48=) rs1555403374
NM_001018005.2(TPM1):c.150C>A (p.Leu50=) rs2140627934
NM_001018005.2(TPM1):c.152A>C (p.Lys51Thr) rs1566937728
NM_001018005.2(TPM1):c.154G>A (p.Gly52Ser) rs730881127
NM_001018005.2(TPM1):c.15G>A (p.Lys5=) rs2140594119
NM_001018005.2(TPM1):c.163G>T (p.Asp55Tyr) rs397516363
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly) rs1566937759
NM_001018005.2(TPM1):c.182C>G (p.Ser61Cys) rs2031863455
NM_001018005.2(TPM1):c.185A>G (p.Glu62Gly) rs2031864718
NM_001018005.2(TPM1):c.196G>C (p.Asp66His) rs2031866819
NM_001018005.2(TPM1):c.204G>A (p.Gln68=) rs2140629119
NM_001018005.2(TPM1):c.207G>T (p.Glu69Asp)
NM_001018005.2(TPM1):c.20_26dup (p.Met10fs) rs2031422919
NM_001018005.2(TPM1):c.214G>A (p.Glu72Lys) rs1566937844
NM_001018005.2(TPM1):c.234C>A (p.Ala78=) rs2031872905
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.262C>G (p.Leu88Val) rs1555407795
NM_001018005.2(TPM1):c.264G>A (p.Leu88=) rs779411131
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.294G>A (p.Glu98=) rs747206706
NM_001018005.2(TPM1):c.301C>G (p.Arg101Gly) rs769069020
NM_001018005.2(TPM1):c.304G>A (p.Ala102Thr) rs2140908263
NM_001018005.2(TPM1):c.312G>A (p.Glu104=)
NM_001018005.2(TPM1):c.319G>C (p.Ala107Pro)
NM_001018005.2(TPM1):c.324A>G (p.Thr108=) rs2140908615
NM_001018005.2(TPM1):c.327T>G (p.Ala109=) rs2140908643
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.34A>T (p.Lys12Ter) rs2031426015
NM_001018005.2(TPM1):c.375-11T>A rs2140936883
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.408A>C (p.Lys136Asn) rs1596372037
NM_001018005.2(TPM1):c.431A>G (p.Gln144Arg) rs1566962338
NM_001018005.2(TPM1):c.45G>A (p.Lys15=) rs199476301
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.48G>A (p.Glu16=)
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+10C>T rs397516377
NM_001018005.2(TPM1):c.563+244del rs2035572042
NM_001018005.2(TPM1):c.563+266C>T rs201813515
NM_001018005.2(TPM1):c.563+284T>C rs1566964956
NM_001018005.2(TPM1):c.563+332A>G rs1566965048
NM_001018005.2(TPM1):c.563+337A>C rs2035582536
NM_001018005.2(TPM1):c.563+6C>G rs397516378
NM_001018005.2(TPM1):c.564-103G>A rs528733046
NM_001018005.2(TPM1):c.564-12C>G rs113591254
NM_001018005.2(TPM1):c.572_573delinsTT (p.Ala191Val) rs730881154
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.585A>G (p.Glu195=) rs3218717
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter) rs1131003
NM_001018005.2(TPM1):c.589T>C (p.Leu197=) rs2140963629
NM_001018005.2(TPM1):c.591G>A (p.Leu197=) rs2140963657
NM_001018005.2(TPM1):c.598_610del (p.Thr199_Val200insTer) rs2035664302
NM_001018005.2(TPM1):c.617C>G (p.Ser206Ter) rs2140964158
NM_001018005.2(TPM1):c.620del (p.Leu207fs) rs587777905
NM_001018005.2(TPM1):c.627T>G (p.Ala209=) rs769210513
NM_001018005.2(TPM1):c.629A>G (p.Gln210Arg) rs777139450
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val) rs769951937
NM_001018005.2(TPM1):c.639+3A>C rs2140964607
NM_001018005.2(TPM1):c.640-14C>G rs781638696
NM_001018005.2(TPM1):c.640-14C>T rs781638696
NM_001018005.2(TPM1):c.65C>G (p.Ala22Gly) rs2031431973
NM_001018005.2(TPM1):c.660A>G (p.Arg220=) rs2035732196
NM_001018005.2(TPM1):c.666G>A (p.Glu222=) rs2035732887
NM_001018005.2(TPM1):c.681_682delinsAG (p.Leu228Val) rs2140969876
NM_001018005.2(TPM1):c.703-12A>T rs2035786278
NM_001018005.2(TPM1):c.703-15A>G rs962090195
NM_001018005.2(TPM1):c.703-8C>G rs2035786670
NM_001018005.2(TPM1):c.703G>A (p.Ala235Thr) rs2035787414
NM_001018005.2(TPM1):c.711T>A (p.Thr237=)
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001018005.2(TPM1):c.727G>A (p.Glu243Lys)
NM_001018005.2(TPM1):c.731G>A (p.Arg244Lys) rs1566967710
NM_001018005.2(TPM1):c.735A>G (p.Ser245=) rs771961466
NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp) rs786204412
NM_001018005.2(TPM1):c.749A>T (p.Glu250Val) rs1596386673
NM_001018005.2(TPM1):c.75G>A (p.Ala25=) rs1214191576
NM_001018005.2(TPM1):c.75G>T (p.Ala25=) rs1214191576
NM_001018005.2(TPM1):c.773-6T>A rs374049254
NM_001018005.2(TPM1):c.79G>A (p.Ala27Thr)
NM_001018005.2(TPM1):c.842T>G (p.Met281Arg) rs199476321
NM_001018005.2(TPM1):c.851+5dup rs2036008903
NM_001018005.2(TPM1):c.851+6C>A rs375043184
NM_001018005.2(TPM1):c.852-12A>G rs1414878944
NM_001018005.2(TPM1):c.852-12A>T
NM_001018005.2(TPM1):c.852A>T (p.Ile284=) rs759481997
NM_001018005.2(TPM1):c.85AAG[1] (p.Lys30del) rs2031437544
NM_001018005.2(TPM1):c.94G>T (p.Ala32Ser) rs2140596321
NM_001018005.2(TPM1):c.95C>T (p.Ala32Val)
NM_001018008.2(TPM1):c.707A>G (p.Asn236Ser)

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