ClinVar Miner

List of variants reported as likely pathogenic for TPM2-related myopathy

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met) rs575446156 0.00003
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His) rs747155223 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys) rs764602570 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) rs145088074 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met) rs776830747 0.00001
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg) rs1247313340
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.5560-2A>C rs1566521710
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000432.4(MYL2):c.499T>C (p.Ter167Gln) rs2071647433
NM_000540.2(RYR1):c.14970delG rs1568613962
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp) rs1971575594
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly) rs1568593984
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg) rs1568604308
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr) rs1274780855
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser) rs118192146
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del) rs2145896801
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met) rs2145917373
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs) rs1555806119
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.2168-1G>A
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter) rs371455345
NM_000540.3(RYR1):c.2338dup (p.Val780fs) rs1967603354
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile) rs1377668924
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) rs193922787
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro) rs1263237391
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs) rs761483896
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val) rs775492883
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
NM_000540.3(RYR1):c.9345del (p.Ser3116fs) rs2145663047
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys) rs978984063
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) rs371410845
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys) rs1659962077
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003289.4(TPM2):c.269G>A (p.Arg90His) rs1563929454
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_152263.4(TPM3):c.118-12G>A
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.243+1G>A
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly) rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val) rs2148295444
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)
NM_152263.4(TPM3):c.642+2T>C
NM_213674.1(TPM2):c.773-2A>C rs2131843731

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