ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 3

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.65141
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.04876
NM_001018005.2(TPM1):c.*148G>T rs7668 0.03824
NM_001018005.2(TPM1):c.*76A>G rs140658011 0.00339
NM_001018005.2(TPM1):c.*68A>G rs374459540 0.00054
NM_001018005.2(TPM1):c.*128C>T rs540306699 0.00044
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00042
NM_001018005.2(TPM1):c.*37G>A rs201563826 0.00016
NM_001018005.2(TPM1):c.-106C>T rs886051320 0.00016
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00013
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018005.2(TPM1):c.564-11G>A rs532254032 0.00007
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018005.2(TPM1):c.249C>T (p.Ala83=) rs200257214 0.00005
NM_001018005.2(TPM1):c.*145A>G rs148842623 0.00004
NM_001018005.2(TPM1):c.-114G>A rs886051319 0.00004
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_001018005.1(TPM1):c.-94G>C rs530410579 0.00001
NM_001018005.2(TPM1):c.*11T>G rs752883071 0.00001
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly) rs1566936237 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 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_001018005.1(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.115-6T>C rs2542431196
NM_001018005.2(TPM1):c.139C>G (p.Gln47Glu) rs2031854538
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys) rs730881131
NM_001018005.2(TPM1):c.296T>C (p.Leu99Ser)
NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln) rs1596361132
NM_001018005.2(TPM1):c.376G>A (p.Gly126Ser)
NM_001018005.2(TPM1):c.380T>A (p.Met127Lys)
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.493-6C>T rs397516374
NM_001018005.2(TPM1):c.513C>G (p.Ile171Met) rs730881137
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly) rs104894502
NM_001018005.2(TPM1):c.564-5A>T rs550286836
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.674T>C (p.Ile225Thr)
NM_001018005.2(TPM1):c.772+17T>A rs1596386853
NM_001018005.2(TPM1):c.777G>T (p.Glu259Asp) rs2035997247
NM_001018005.2(TPM1):c.791A>G (p.Lys264Arg)
NM_001018005.2(TPM1):c.802A>G (p.Lys268Glu) rs1555410433
NM_001018005.2(TPM1):c.839A>C (p.Asp280Ala) rs2036005410
NM_001018005.2(TPM1):c.83A>C (p.Asp28Ala) rs2542412761
NM_001018005.2(TPM1):c.85A>C (p.Lys29Gln) rs1255071660

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