ClinVar Miner

List of variants in gene TPM1 reported by Ambry Genetics

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_001018005.2(TPM1):c.177A>G (p.Lys59=) rs149346709 0.00031
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00010
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) rs149659674 0.00009
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018005.2(TPM1):c.687C>T (p.Ser229=) rs759362606 0.00004
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=) rs751001221 0.00004
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001018005.2(TPM1):c.474C>T (p.Ala158=) rs143922069 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001018005.2(TPM1):c.549T>C (p.Ala183=) rs199476313 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001018005.2(TPM1):c.564-5A>G rs550286836 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001018005.2(TPM1):c.645G>A (p.Ser215=) rs773403386 0.00002
NM_001018005.2(TPM1):c.663T>C (p.Tyr221=) rs774859181 0.00002
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.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.252C>T (p.Asp84=) rs369617788 0.00001
NM_001018005.2(TPM1):c.272G>A (p.Arg91His) rs1477561695 0.00001
NM_001018005.2(TPM1):c.273C>T (p.Arg91=) rs1400074860 0.00001
NM_001018005.2(TPM1):c.288G>A (p.Glu96=) rs192883939 0.00001
NM_001018005.2(TPM1):c.438C>T (p.Ile146=) rs1460142862 0.00001
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val) rs774903903 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.555C>T (p.Leu185=) rs752088217 0.00001
NM_001018005.2(TPM1):c.573C>T (p.Ala191=) rs780507307 0.00001
NM_001018005.2(TPM1):c.630G>T (p.Gln210His) rs761816813 0.00001
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.684T>C (p.Leu228=) rs397516384 0.00001
NM_001018005.2(TPM1):c.703-3C>T rs796682308 0.00001
NM_001018005.2(TPM1):c.705T>C (p.Ala235=) rs1222579354 0.00001
NM_001018005.2(TPM1):c.807C>T (p.Ala269=) rs751778912 0.00001
NM_001018005.2(TPM1):c.814G>A (p.Glu272Lys) rs755226348 0.00001
NM_001018005.2(TPM1):c.828C>T (p.His276=) rs368813394 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.837C>T (p.Asn279=) rs397516393 0.00001
NM_001018005.2(TPM1):c.840T>C (p.Asp280=) rs749271066 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 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.852-5C>T rs766724527 0.00001
NM_001018005.2(TPM1):c.93G>C (p.Ala31=) rs770661916 0.00001
NM_001018005.2(TPM1):c.115-3C>T
NM_001018005.2(TPM1):c.130G>A (p.Val44Met)
NM_001018005.2(TPM1):c.143A>G (p.Lys48Arg)
NM_001018005.2(TPM1):c.157A>T (p.Thr53Ser)
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly) rs1566937759
NM_001018005.2(TPM1):c.187G>A (p.Ala63Thr) rs1064796782
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.196G>C (p.Asp66His) rs2031866819
NM_001018005.2(TPM1):c.1A>G (p.Met1Val) rs367543668
NM_001018005.2(TPM1):c.207G>A (p.Glu69=)
NM_001018005.2(TPM1):c.213G>A (p.Leu71=)
NM_001018005.2(TPM1):c.215A>G (p.Glu72Gly) rs1358909905
NM_001018005.2(TPM1):c.238G>A (p.Asp80Asn)
NM_001018005.2(TPM1):c.23T>C (p.Met8Thr)
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.240+3A>C rs1555403436
NM_001018005.2(TPM1):c.242C>T (p.Ala81Val) rs1596360642
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
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.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.280C>A (p.Leu94Met)
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.311A>G (p.Glu104Gly)
NM_001018005.2(TPM1):c.313C>T (p.Arg105Cys)
NM_001018005.2(TPM1):c.328T>C (p.Leu110=)
NM_001018005.2(TPM1):c.336G>A (p.Lys112=)
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.33G>C (p.Leu11=)
NM_001018005.2(TPM1):c.369T>A (p.Ser123Arg)
NM_001018005.2(TPM1):c.371A>G (p.Glu124Gly)
NM_001018005.2(TPM1):c.377G>C (p.Gly126Ala)
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.421A>G (p.Met141Val) rs2035311298
NM_001018005.2(TPM1):c.425A>G (p.Glu142Gly)
NM_001018005.2(TPM1):c.470A>C (p.Asp157Ala)
NM_001018005.2(TPM1):c.48G>A (p.Glu16=)
NM_001018005.2(TPM1):c.499dup (p.Arg167fs) rs1596377768
NM_001018005.2(TPM1):c.49A>C (p.Asn17His)
NM_001018005.2(TPM1):c.514A>T (p.Ile172Phe) rs760374266
NM_001018005.2(TPM1):c.524A>G (p.Asp175Gly) rs886039024
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) rs786204411
NM_001018005.2(TPM1):c.568T>C (p.Cys190Arg) rs730881139
NM_001018005.2(TPM1):c.568T>G (p.Cys190Gly)
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.575A>G (p.Glu192Gly)
NM_001018005.2(TPM1):c.57G>T (p.Leu19Phe)
NM_001018005.2(TPM1):c.583G>A (p.Glu195Lys) rs1555409508
NM_001018005.2(TPM1):c.589T>C (p.Leu197=) rs2140963629
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.639G>C (p.Lys213Asn)
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.681C>T (p.Val227=)
NM_001018005.2(TPM1):c.717T>G (p.Ala239=)
NM_001018005.2(TPM1):c.723T>G (p.Phe241Leu)
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.729G>C (p.Glu243Asp)
NM_001018005.2(TPM1):c.752A>C (p.Lys251Thr)
NM_001018005.2(TPM1):c.755G>A (p.Ser252Asn)
NM_001018005.2(TPM1):c.803A>G (p.Lys268Arg)
NM_001018005.2(TPM1):c.813C>T (p.Ser271=)
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr) rs745520822
NM_001018005.2(TPM1):c.852A>T (p.Ile284=) rs759481997
NM_001018005.2(TPM1):c.87G>A (p.Lys29=) rs530234301
NM_001018005.2(TPM1):c.93G>A (p.Ala31=)
NM_001018005.2(TPM1):c.94G>T (p.Ala32Ser) rs2140596321
NM_001018020.2(TPM1):c.840G>T (p.Glu280Asp)

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