ClinVar Miner

List of variants in gene TPM1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001018004.2(TPM1):c.773-1148A>C rs139159081 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001018005.2(TPM1):c.841A>G (p.Met281Val) rs397516394 0.00002
NM_001018005.2(TPM1):c.104G>C (p.Arg35Thr) rs730881152 0.00001
NM_001018005.2(TPM1):c.115-204G>C rs730881133 0.00001
NM_001018005.2(TPM1):c.115-275A>T rs730881132 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 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.784G>A (p.Ala262Thr) rs758506771 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.850A>G (p.Ile284Val) rs199476322 0.00001
NC_000015.10:g.63042753_63042784del rs1357146122
NM_001018005.2(TPM1):c.*8T>C rs2141012454
NM_001018005.2(TPM1):c.10A>G (p.Ile4Val) rs730881148
NM_001018005.2(TPM1):c.115-206C>A rs1555403294
NM_001018005.2(TPM1):c.115-229C>A rs1284249879
NM_001018005.2(TPM1):c.115-331C>G rs562829514
NM_001018005.2(TPM1):c.118G>C (p.Glu40Gln) rs104894501
NM_001018005.2(TPM1):c.134C>A (p.Ser45Ter) rs2140627688
NM_001018005.2(TPM1):c.140A>G (p.Gln47Arg) rs1060501864
NM_001018005.2(TPM1):c.148C>T (p.Leu50Phe) rs1060501866
NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del) rs730881155
NM_001018005.2(TPM1):c.152A>G (p.Lys51Arg) rs1566937728
NM_001018005.2(TPM1):c.154G>A (p.Gly52Ser) rs730881127
NM_001018005.2(TPM1):c.187G>A (p.Ala63Thr) rs1064796782
NM_001018005.2(TPM1):c.187G>C (p.Ala63Pro) rs1064796782
NM_001018005.2(TPM1):c.1A>G (p.Met1Val) rs367543668
NM_001018005.2(TPM1):c.211C>G (p.Leu71Val) rs730881143
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.241-1G>C rs111234645
NM_001018005.2(TPM1):c.248C>A (p.Ala83Asp) rs730881130
NM_001018005.2(TPM1):c.253G>T (p.Val85Leu) rs730881156
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr) rs2034911718
NM_001018005.2(TPM1):c.25C>A (p.Gln9Lys) rs730881149
NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys) rs1085307487
NM_001018005.2(TPM1):c.26A>T (p.Gln9Leu) rs1555402931
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.319G>C (p.Ala107Pro)
NM_001018005.2(TPM1):c.332A>G (p.Gln111Arg) rs2034924462
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.398G>A (p.Arg133Gln) rs2140937312
NM_001018005.2(TPM1):c.403C>G (p.Gln135Glu) rs11558749
NM_001018005.2(TPM1):c.40G>T (p.Asp14Tyr) rs876661210
NM_001018005.2(TPM1):c.411T>A (p.Asp137Glu) rs1555408631
NM_001018005.2(TPM1):c.418A>C (p.Lys140Gln) rs730881135
NM_001018005.2(TPM1):c.431A>G (p.Gln144Arg) rs1566962338
NM_001018005.2(TPM1):c.434A>G (p.Glu145Gly) rs2140937995
NM_001018005.2(TPM1):c.513C>G (p.Ile171Met) rs730881137
NM_001018005.2(TPM1):c.514A>C (p.Ile172Leu) rs760374266
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.516T>G (p.Ile172Met) rs730881138
NM_001018005.2(TPM1):c.550G>A (p.Glu184Lys) rs2035529273
NM_001018005.2(TPM1):c.551del (p.Glu184fs) rs730881153
NM_001018005.2(TPM1):c.563+266C>T rs201813515
NM_001018005.2(TPM1):c.572_573delinsTT (p.Ala191Val) rs730881154
NM_001018005.2(TPM1):c.58G>A (p.Asp20Asn) rs727504391
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.677A>G (p.Lys226Arg) rs730881144
NM_001018005.2(TPM1):c.702+4A>G rs730881145
NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr) rs199476318
NM_001018005.2(TPM1):c.757A>G (p.Ile253Val)
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu) rs727504354
NM_001018005.2(TPM1):c.787C>G (p.Gln263Glu) rs730881147
NM_001018005.2(TPM1):c.815A>G (p.Glu272Gly) rs727503519
NM_001018005.2(TPM1):c.82G>T (p.Asp28Tyr) rs397516391
NM_001018005.2(TPM1):c.830C>G (p.Ala277Gly) rs199476320
NM_001018005.2(TPM1):c.842T>G (p.Met281Arg) rs199476321
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444

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