ClinVar Miner

List of variants in gene TPM1 studied for Hypertrophic cardiomyopathy

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Gene type:
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Total variants: 101
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HGVS dbSNP
NM_001018004.2(TPM1):c.*119T>C rs138843544
NM_001018005.1(TPM1):c.-106C>T rs886051320
NM_001018005.1(TPM1):c.-114G>A rs886051319
NM_001018005.1(TPM1):c.-186G>A rs541046450
NM_001018005.1(TPM1):c.-206G>A rs17525848
NM_001018005.1(TPM1):c.-94G>C rs530410579
NM_001018005.1(TPM1):c.640_645del (p.Tyr214_Ser215del) rs1555409659
NM_001018005.2(TPM1):c.*145A>G rs148842623
NM_001018005.2(TPM1):c.*148G>T rs7668
NM_001018005.2(TPM1):c.*68A>G rs374459540
NM_001018005.2(TPM1):c.*76A>G rs140658011
NM_001018005.2(TPM1):c.*97_*98CT[2] rs886051321
NM_001018005.2(TPM1):c.-48C>T rs747523720
NM_001018005.2(TPM1):c.105G>C (p.Arg35Ser)
NM_001018005.2(TPM1):c.112C>G (p.Gln38Glu) rs1060501863
NM_001018005.2(TPM1):c.114+3C>T
NM_001018005.2(TPM1):c.115-5C>G rs753196985
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501
NM_001018005.2(TPM1):c.123T>C (p.Asp41=) rs1029129685
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.14_16AGA[2] (p.Lys7del) rs730881155
NM_001018005.2(TPM1):c.152A>G (p.Lys51Arg) rs1566937728
NM_001018005.2(TPM1):c.153G>A (p.Lys51=) rs1555403378
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly) rs1566937759
NM_001018005.2(TPM1):c.172G>C (p.Asp58His) rs199476304
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.209A>C (p.Lys70Thr) rs199476307
NM_001018005.2(TPM1):c.215A>G (p.Glu72Gly)
NM_001018005.2(TPM1):c.226A>G (p.Lys76Glu) rs1555403432
NM_001018005.2(TPM1):c.241-10C>T rs917063084
NM_001018005.2(TPM1):c.241-8C>T rs765893032
NM_001018005.2(TPM1):c.242C>T (p.Ala81Val)
NM_001018005.2(TPM1):c.249C>T (p.Ala83=) rs200257214
NM_001018005.2(TPM1):c.252C>T (p.Asp84=) 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.262C>G (p.Leu88Val) rs1555407795
NM_001018005.2(TPM1):c.269G>A (p.Arg90Lys)
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.377G>T (p.Gly126Val) rs1566962034
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
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.486T>C (p.Tyr162=) rs11558747
NM_001018005.2(TPM1):c.499dup (p.Arg167fs)
NM_001018005.2(TPM1):c.4G>C (p.Asp2His) rs1060501865
NM_001018005.2(TPM1):c.511A>C (p.Ile171Leu) rs774903903
NM_001018005.2(TPM1):c.51C>G (p.Asn17Lys) rs878854150
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503
NM_001018005.2(TPM1):c.538G>C (p.Glu180Gln) rs1555409132
NM_001018005.2(TPM1):c.546G>A (p.Arg182=) rs1555409143
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376
NM_001018005.2(TPM1):c.549T>C (p.Ala183=) rs199476313
NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln) rs727504264
NM_001018005.2(TPM1):c.563+6C>G rs397516378
NM_001018005.2(TPM1):c.564-11G>A rs532254032
NM_001018005.2(TPM1):c.564-5A>T rs550286836
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.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.603G>C (p.Thr201=) rs397516485
NM_001018005.2(TPM1):c.606C>T (p.Asn202=) rs1225777387
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>T (p.Ala209Ser) rs730881159
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151
NM_001018005.2(TPM1):c.630G>A (p.Gln210=) rs761816813
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.687C>T (p.Ser229=) rs759362606
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001018005.2(TPM1):c.702+10G>C rs1386461337
NM_001018005.2(TPM1):c.713G>T (p.Arg238Leu)
NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr) rs199476318
NM_001018005.2(TPM1):c.736G>A (p.Val246Ile)
NM_001018005.2(TPM1):c.773-3T>C
NM_001018005.2(TPM1):c.773-4A>G rs1555410410
NM_001018005.2(TPM1):c.784G>A (p.Ala262Thr) rs758506771
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.797A>G (p.Lys266Arg) rs371934474
NM_001018005.2(TPM1):c.806C>T (p.Ala269Val)
NM_001018005.2(TPM1):c.808A>G (p.Ile270Val) rs1555410445
NM_001018005.2(TPM1):c.814G>A (p.Glu272Lys)
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn) rs397516391
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391
NM_001018005.2(TPM1):c.841A>G (p.Met281Val) rs397516394
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322
NM_001018005.2(TPM1):c.851+6C>A rs375043184
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr) rs745520822
NM_001018005.2(TPM1):c.88_89delinsGC (p.Lys30Ala) rs1555402999
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444

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