ClinVar Miner

List of variants in gene TPM1 reported as likely pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 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.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018005.1(TPM1):c.640_645del rs1555409659
NM_001018005.2(TPM1):c.114+2T>C rs1114167357
NM_001018005.2(TPM1):c.114G>A (p.Gln38=) rs2031445986
NM_001018005.2(TPM1):c.161A>C (p.Glu54Ala)
NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) rs397516363
NM_001018005.2(TPM1):c.163G>T (p.Asp55Tyr) rs397516363
NM_001018005.2(TPM1):c.179A>G (p.Tyr60Cys) rs1596303148
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) rs397516364
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr) rs2034911718
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys) rs730881131
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) rs397516370
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.40G>T (p.Asp14Tyr) rs876661210
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) rs727504389
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) rs397516371
NM_001018005.2(TPM1):c.433G>A (p.Glu145Lys)
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn) 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.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) rs876657662
NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp) rs886037905
NM_001018005.2(TPM1):c.52G>A (p.Ala18Thr)
NM_001018005.2(TPM1):c.538G>A (p.Glu180Lys) rs1555409132
NM_001018005.2(TPM1):c.539A>T (p.Glu180Val) rs104894502
NM_001018005.2(TPM1):c.541G>C (p.Glu181Gln)
NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln) rs727504264
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter) rs1131003
NM_001018005.2(TPM1):c.598G>C (p.Val200Leu) rs2140963813
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.616T>G (p.Ser206Ala) rs2035667597
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.656A>T (p.Asp219Val)
NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe) rs1114167356
NM_001018005.2(TPM1):c.710C>G (p.Thr237Ser) rs2140974070
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.749A>T (p.Glu250Val) rs1596386673
NM_001018005.2(TPM1):c.85AAG[1] (p.Lys30del) rs2031437544

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