ClinVar Miner

List of variants in gene TPM1 studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 18
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HGVS dbSNP
NM_000366.5(TPM1):c.559G>C (p.Glu187Gln) rs727504264
NM_000366.5(TPM1):c.772+94_772+99delCGCTCCinsTT rs397515630
NM_001018004.1(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.1(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.1(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.1(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.1(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.1(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.1(TPM1):c.523G>A (p.Asp175Asn) rs104894503
NM_001018005.1(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.1(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.1(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.1(TPM1):c.746T>G (p.Leu249Trp) rs786204412
NM_001018005.1(TPM1):c.77A>G (p.Glu26Gly) rs730880234
NM_001018005.1(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001018006.1(TPM1):c.572G>A (p.Arg191Gln) rs141757680
NM_001018007.1(TPM1):c.175C>T (p.Arg59Trp) rs746952638

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