ClinVar Miner

List of variants in gene TPM1 reported as likely pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
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.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.128T>C (p.Leu43Pro) rs2031853048
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
NM_001018005.2(TPM1):c.251A>C (p.Asp84Ala) rs2034909771
NM_001018005.2(TPM1):c.289G>C (p.Glu97Gln) rs1064793284
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.410A>T (p.Asp137Val) rs730881134
NM_001018005.2(TPM1):c.413A>C (p.Glu138Ala) rs786204410
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp) rs1555409523
NM_001018005.2(TPM1):c.625G>A (p.Ala209Thr) rs730881159
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr) rs730881160

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