ClinVar Miner

List of variants in gene TPM1 studied for congenital anomaly of cardiovascular system

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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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.*148G>T rs7668 0.03733
NM_001018005.2(TPM1):c.*76A>G rs140658011 0.00339
NM_001018005.2(TPM1):c.772+163G>C rs190305952 0.00252
NM_001018005.2(TPM1):c.*68A>G rs374459540 0.00054
NM_001018005.2(TPM1):c.*128C>T rs540306699 0.00049
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_001018005.1(TPM1):c.-106C>T rs886051320 0.00016
NM_001018005.2(TPM1):c.*37G>A rs201563826 0.00016
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) rs149659674 0.00009
NM_001018005.2(TPM1):c.564-11G>A rs532254032 0.00007
NM_001018005.2(TPM1):c.115-335G>T rs587780971 0.00006
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018005.1(TPM1):c.-114G>A rs886051319 0.00004
NM_001018005.2(TPM1):c.*145A>G rs148842623 0.00004
NM_001018005.2(TPM1):c.249C>T (p.Ala83=) rs200257214 0.00004
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=) rs751001221 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.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001018005.1(TPM1):c.-94G>C rs530410579 0.00001
NM_001018005.2(TPM1):c.*11T>G rs752883071 0.00001
NM_001018005.2(TPM1):c.-7C>A rs370871307 0.00001
NM_001018005.2(TPM1):c.114+3C>T rs112677344 0.00001
NM_001018005.2(TPM1):c.115-213G>C rs979999394 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.272G>A (p.Arg91His) rs1477561695 0.00001
NM_001018005.2(TPM1):c.314G>A (p.Arg105His) rs773149185 0.00001
NM_001018005.2(TPM1):c.493-6C>T rs397516374 0.00001
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val) rs774903903 0.00001
NM_001018005.2(TPM1):c.563+6C>T rs397516378 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.6C>T (p.Asp2=) rs1350935943 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.852-5C>T rs766724527 0.00001
NM_001018005.2(TPM1):c.93G>C (p.Ala31=) rs770661916 0.00001
NM_001018005.1(TPM1):c.-185G>C rs1032357917
NM_001018005.1(TPM1):c.-186G>A rs541046450
NM_001018005.2(TPM1):c.*209T>C rs2036258924
NM_001018005.2(TPM1):c.*30_*31insATTTT rs2141012766
NM_001018005.2(TPM1):c.-47G>T rs372760316
NM_001018005.2(TPM1):c.114+2T>C rs1114167357
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) rs104894501
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.1A>G (p.Met1Val) rs367543668
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu) rs369617788
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr) rs2034911718
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val) rs1555407795
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.2T>C (p.Met1Thr) rs1475635564
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.388A>G (p.Ile130Val) rs1114167355
NM_001018005.2(TPM1):c.391G>C (p.Glu131Gln) rs2035303241
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp) rs886037905
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.550G>A (p.Glu184Lys) rs2035529273
NM_001018005.2(TPM1):c.563+249C>T rs397516379
NM_001018005.2(TPM1):c.563+53C>G
NM_001018005.2(TPM1):c.564-5A>T rs550286836
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.598G>C (p.Val200Leu) rs2140963813
NM_001018005.2(TPM1):c.678G>C (p.Lys226Asn) rs1343107860
NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe) rs1114167356
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu) rs199476319
NM_001018005.2(TPM1):c.772+63A>G
NM_001018005.2(TPM1):c.7G>T (p.Ala3Ser)

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