ClinVar Miner

List of variants in gene TPM1 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.851+7G>A rs765721221 0.00004
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001018005.2(TPM1):c.105G>C (p.Arg35Ser) rs1448738061 0.00001
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly) rs1566936237 0.00001
NM_001018005.2(TPM1):c.114+4T>C rs745777320 0.00001
NM_001018005.2(TPM1):c.272G>A (p.Arg91His) rs1477561695 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.673A>G (p.Ile225Val) rs193922410 0.00001
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433 0.00001
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn) rs397516391 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018005.2(TPM1):c.838G>A (p.Asp280Asn) rs777635889 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018005.2(TPM1):c.852-4G>A rs374970923 0.00001
NM_001018005.2(TPM1):c.852-7C>G rs370475599 0.00001
NM_001018005.2(TPM1):c.*5_*8del rs786204415
NM_001018005.2(TPM1):c.106A>C (p.Ser36Arg)
NM_001018005.2(TPM1):c.115-7C>T rs1566937651
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly) rs1566937759
NM_001018005.2(TPM1):c.196G>C (p.Asp66His) rs2031866819
NM_001018005.2(TPM1):c.214G>A (p.Glu72Lys) rs1566937844
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val) rs1555407795
NM_001018005.2(TPM1):c.304G>A (p.Ala102Thr) rs2140908263
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.431A>G (p.Gln144Arg) rs1566962338
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) rs786204411
NM_001018005.2(TPM1):c.563+10C>T rs397516377
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val) rs769951937
NM_001018005.2(TPM1):c.727G>A (p.Glu243Lys)
NM_001018005.2(TPM1):c.731G>A (p.Arg244Lys) rs1566967710
NM_001018005.2(TPM1):c.735A>G (p.Ser245=) rs771961466
NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp) rs786204412

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