ClinVar Miner

List of variants in gene TPM1 reported as uncertain significance for Cardiomyopathy

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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) rs149659674 0.00009
NM_001018004.2(TPM1):c.773-1153G>A rs772871597 0.00004
NM_001018005.2(TPM1):c.851+7G>A rs765721221 0.00004
NM_001018004.2(TPM1):c.773-1218del rs1249033660 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_000366.2(TPM1):c.801C>T (p.Asn267=) rs146470352 0.00001
NM_001018005.2(TPM1):c.-13C>A rs1257687404 0.00001
NM_001018005.2(TPM1):c.-7C>A rs370871307 0.00001
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+3C>T rs112677344 0.00001
NM_001018005.2(TPM1):c.114+4T>C rs745777320 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.272G>A (p.Arg91His) rs1477561695 0.00001
NM_001018005.2(TPM1):c.314G>A (p.Arg105His) rs773149185 0.00001
NM_001018005.2(TPM1):c.493-6C>T rs397516374 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.564-9A>G rs755689022 0.00001
NM_001018005.2(TPM1):c.630G>T (p.Gln210His) rs761816813 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_001018004.2(TPM1):c.773-1206C>G rs771167283
NM_001018004.2(TPM1):c.773-1225T>C rs2036507718
NM_001018005.2(TPM1):c.*5_*8del rs786204415
NM_001018005.2(TPM1):c.-10C>T
NM_001018005.2(TPM1):c.-12G>A
NM_001018005.2(TPM1):c.-15C>G
NM_001018005.2(TPM1):c.-7C>T
NM_001018005.2(TPM1):c.100G>A (p.Asp34Asn)
NM_001018005.2(TPM1):c.104G>A (p.Arg35Lys) rs730881152
NM_001018005.2(TPM1):c.106A>C (p.Ser36Arg)
NM_001018005.2(TPM1):c.112C>G (p.Gln38Glu) rs1060501863
NM_001018005.2(TPM1):c.115-7C>T rs1566937651
NM_001018005.2(TPM1):c.152A>C (p.Lys51Thr) rs1566937728
NM_001018005.2(TPM1):c.154G>A (p.Gly52Ser) rs730881127
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly) rs1566937759
NM_001018005.2(TPM1):c.182C>G (p.Ser61Cys) rs2031863455
NM_001018005.2(TPM1):c.185A>G (p.Glu62Gly) rs2031864718
NM_001018005.2(TPM1):c.196G>C (p.Asp66His) rs2031866819
NM_001018005.2(TPM1):c.207G>T (p.Glu69Asp)
NM_001018005.2(TPM1):c.20_26dup (p.Met10fs) rs2031422919
NM_001018005.2(TPM1):c.214G>A (p.Glu72Lys) rs1566937844
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu) rs369617788
NM_001018005.2(TPM1):c.253G>A (p.Val85Ile) rs730881156
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val) rs1555407795
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.301C>G (p.Arg101Gly) rs769069020
NM_001018005.2(TPM1):c.304G>A (p.Ala102Thr) rs2140908263
NM_001018005.2(TPM1):c.319G>C (p.Ala107Pro)
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.34A>T (p.Lys12Ter) rs2031426015
NM_001018005.2(TPM1):c.375-11T>A rs2140936883
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.408A>C (p.Lys136Asn) rs1596372037
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.562G>A (p.Gly188Ser) rs2035531508
NM_001018005.2(TPM1):c.563+10C>T rs397516377
NM_001018005.2(TPM1):c.563+6C>G rs397516378
NM_001018005.2(TPM1):c.564-103G>A rs528733046
NM_001018005.2(TPM1):c.564-12C>G rs113591254
NM_001018005.2(TPM1):c.572_573delinsTT (p.Ala191Val) rs730881154
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter) rs1131003
NM_001018005.2(TPM1):c.598_610del (p.Thr199_Val200insTer) rs2035664302
NM_001018005.2(TPM1):c.617C>G (p.Ser206Ter) rs2140964158
NM_001018005.2(TPM1):c.620del (p.Leu207fs) rs587777905
NM_001018005.2(TPM1):c.629A>G (p.Gln210Arg) rs777139450
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val) rs769951937
NM_001018005.2(TPM1):c.639+3A>C rs2140964607
NM_001018005.2(TPM1):c.640-14C>G rs781638696
NM_001018005.2(TPM1):c.65C>G (p.Ala22Gly) rs2031431973
NM_001018005.2(TPM1):c.681_682delinsAG (p.Leu228Val) rs2140969876
NM_001018005.2(TPM1):c.703-8C>G rs2035786670
NM_001018005.2(TPM1):c.703G>A (p.Ala235Thr) rs2035787414
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
NM_001018005.2(TPM1):c.773-6T>A rs374049254
NM_001018005.2(TPM1):c.79G>A (p.Ala27Thr)
NM_001018005.2(TPM1):c.842T>G (p.Met281Arg) rs199476321
NM_001018005.2(TPM1):c.851+5dup rs2036008903
NM_001018005.2(TPM1):c.94G>T (p.Ala32Ser) rs2140596321
NM_001018005.2(TPM1):c.95C>T (p.Ala32Val)
NM_001018008.2(TPM1):c.707A>G (p.Asn236Ser)

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