ClinVar Miner

List of variants studied for TPM3-related myopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln) rs146206507 0.00005
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile) rs775112172 0.00005
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser) rs144135230 0.00005
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His) rs145026307 0.00004
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln) rs727504342 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys) rs397516196 0.00001
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys) rs774316371 0.00001
NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe) rs750324313 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.8519G>A (p.Arg2840Gln) rs923436076 0.00001
NM_213674.1(TPM2):c.776C>G (p.Thr259Ser) rs1197412497 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.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2923G>A (p.Val975Met) rs1892576769
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro) rs1892234748
NM_000257.4(MYH7):c.4729G>A (p.Ala1577Thr) rs1892202753
NM_000257.4(MYH7):c.5333A>C (p.His1778Pro) rs1892139406
NM_000257.4(MYH7):c.5560-2A>C rs1566521710
NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro) rs1972430121
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp) rs1973350586
NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp) rs1973365556
NM_000540.3(RYR1):c.13281C>G (p.His4427Gln) rs1396461166
NM_000540.3(RYR1):c.13746+4C>G rs1973676634
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu) rs1974036074
NM_000540.3(RYR1):c.2338dup (p.Val780fs) rs1967603354
NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg) rs765088913
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_003289.4(TPM2):c.28A>T (p.Met10Leu) rs1825152365
NM_152263.4(TPM3):c.59T>C (p.Leu20Pro) rs1663698070

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