ClinVar Miner

List of variants in gene TPM1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.115-262C>T rs74573041 0.00079
NM_001018005.2(TPM1):c.115-319C>G rs201720832 0.00070
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00015
NM_001018020.2(TPM1):c.835C>T (p.Leu279=) rs374434837 0.00013
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018004.2(TPM1):c.773-1153G>A rs772871597 0.00004
NM_001018005.2(TPM1):c.115-235G>A rs914524011 0.00004
NM_001018005.2(TPM1):c.772+144C>T rs573182762 0.00004
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.1(TPM1):c.-186G>A rs541046450
NM_001018005.2(TPM1):c.115-255C>T
NM_001018005.2(TPM1):c.128T>C (p.Leu43Pro) rs2031853048
NM_001018005.2(TPM1):c.204G>A (p.Gln68=) rs2140629119
NM_001018005.2(TPM1):c.379A>G (p.Met127Val)
NM_001018005.2(TPM1):c.408_410del (p.Lys136_Asp137delinsAsn) rs1064797199
NM_001018005.2(TPM1):c.413A>C (p.Glu138Ala) rs786204410
NM_001018005.2(TPM1):c.45G>A (p.Lys15=) rs199476301
NM_001018005.2(TPM1):c.563+266C>A
NM_001018005.2(TPM1):c.589T>C (p.Leu197=) rs2140963629
NM_001018005.2(TPM1):c.772+63A>G
NM_001018005.2(TPM1):c.772+98C>T

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