ClinVar Miner

List of variants reported as pathogenic for TPM3-related myopathy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 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_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NC_000001.10:g.(?_154163642)_(154164494_?)del
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1675dup (p.Ile559fs) rs1475149579
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) rs1558081664
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_152263.4(TPM3):c.118-12G>A
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) rs1571418855
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
NM_152263.4(TPM3):c.455C>T (p.Ala152Val) rs1553249076
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.87_91del (p.Gln30fs) rs2148295371
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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