ClinVar Miner

List of variants reported as likely benign for TPM3-related myopathy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.*3248G>A rs12026177 0.15247
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_152263.4(TPM3):c.*389G>A rs74731791 0.01922
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_152263.4(TPM3):c.*4333A>G rs34629044 0.01027
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_152263.4(TPM3):c.*4062G>A rs140590273 0.00864
NM_152263.4(TPM3):c.*5149G>A rs78002555 0.00816
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.*4154C>T rs145053113 0.00572
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_152263.4(TPM3):c.*3497T>C rs144544045 0.00465
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_152263.4(TPM3):c.*878A>G rs116789181 0.00321
NM_000540.3(RYR1):c.425-19A>G rs193169917 0.00289
NM_152263.4(TPM3):c.*780A>G rs185779007 0.00287
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) rs147131452 0.00268
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_152263.4(TPM3):c.*5640C>T rs564296987 0.00257
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_152263.4(TPM3):c.*4876C>T rs141628385 0.00178
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000540.3(RYR1):c.7836-19C>T rs201378267 0.00090
NM_000540.3(RYR1):c.14130-9T>G rs191894192 0.00088
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_152263.4(TPM3):c.*157C>T rs144482403 0.00047
NM_152263.4(TPM3):c.*1077A>C rs557217738 0.00045
NM_152263.4(TPM3):c.*2138T>C rs566002553 0.00031
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.5656-9C>T rs781212482 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_152263.4(TPM3):c.804C>T (p.Tyr268=) rs762511246 0.00020
NM_152263.4(TPM3):c.249G>A (p.Glu83=) rs149765446 0.00019
NM_152263.4(TPM3):c.*5701C>T rs373631033 0.00018
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_000257.4(MYH7):c.5656-4G>A rs397516250 0.00011
NM_000540.3(RYR1):c.10476A>G (p.Glu3492=) rs767496164 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000540.3(RYR1):c.10803C>T (p.Ala3601=) rs141542477 0.00006
NM_000540.3(RYR1):c.1479A>C (p.Leu493=) rs748552245 0.00006
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=) rs369456396 0.00006
NM_000540.3(RYR1):c.7560C>T (p.His2520=) rs749322590 0.00006
NM_152263.4(TPM3):c.144G>A (p.Gln48=) rs765923858 0.00006
NM_152263.4(TPM3):c.60G>A (p.Leu20=) rs770751758 0.00006
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=) rs45523835 0.00004
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=) rs754295295 0.00004
NM_000257.4(MYH7):c.924C>T (p.Tyr308=) rs762065412 0.00004
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=) rs750757411 0.00004
NM_152263.4(TPM3):c.36G>A (p.Leu12=) rs748116674 0.00004
NM_000257.4(MYH7):c.1608G>A (p.Glu536=) rs397516115 0.00003
NM_000257.4(MYH7):c.895+12C>T rs186276057 0.00003
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=) rs199698011 0.00003
NM_000540.3(RYR1):c.1925+19G>A rs764074598 0.00003
NM_152263.4(TPM3):c.706-8T>G rs1273121877 0.00003
NM_152263.4(TPM3):c.831C>T (p.His277=) rs781032589 0.00003
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=) rs376854724 0.00002
NM_000257.4(MYH7):c.4953+14G>A rs758571263 0.00002
NM_000540.3(RYR1):c.11091C>T (p.Pro3697=) rs201296563 0.00002
NM_000540.3(RYR1):c.1533C>T (p.Ala511=) rs758172706 0.00002
NM_000540.3(RYR1):c.2787-16A>G rs998030731 0.00002
NM_152263.4(TPM3):c.231G>A (p.Lys77=) rs761461964 0.00002
NM_152263.4(TPM3):c.234G>A (p.Lys78=) rs888396890 0.00002
NM_152263.4(TPM3):c.378-13C>T rs367548433 0.00002
NM_152263.4(TPM3):c.777T>C (p.Asp259=) rs767812868 0.00002
NM_000257.4(MYH7):c.1257+7C>A rs759480696 0.00001
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=) rs1361182615 0.00001
NM_000257.4(MYH7):c.4353+20C>T rs199912646 0.00001
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=) rs730880727 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.15022-14A>G rs1355487795 0.00001
NM_000540.3(RYR1):c.1518A>G (p.Ala506=) rs1488570862 0.00001
NM_000540.3(RYR1):c.2931G>A (p.Thr977=) rs771471004 0.00001
NM_000540.3(RYR1):c.46-5C>T rs774388278 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_152263.4(TPM3):c.*1152C>T rs535068015 0.00001
NM_152263.4(TPM3):c.*4940C>G rs562373211 0.00001
NM_152263.4(TPM3):c.172C>T (p.Leu58=) rs997905094 0.00001
NM_152263.4(TPM3):c.210G>A (p.Glu70=) rs767668245 0.00001
NM_152263.4(TPM3):c.228G>A (p.Glu76=) rs765071258 0.00001
NM_152263.4(TPM3):c.246T>C (p.Ala82=) rs751578993 0.00001
NM_152263.4(TPM3):c.339G>A (p.Lys113=) rs548951753 0.00001
NM_152263.4(TPM3):c.340C>T (p.Leu114=) rs760913266 0.00001
NM_152263.4(TPM3):c.483G>A (p.Arg161=) rs150586027 0.00001
NM_152263.4(TPM3):c.546A>G (p.Glu182=) rs762856025 0.00001
NM_152263.4(TPM3):c.615C>G (p.Leu205=) rs1131561 0.00001
NM_152263.4(TPM3):c.705+19T>C rs765448962 0.00001
NM_152263.4(TPM3):c.776-8C>T rs760834004 0.00001
NM_152263.4(TPM3):c.816C>T (p.Ser272=) rs536564074 0.00001
NM_152263.4(TPM3):c.849C>T (p.Thr283=) rs758366885 0.00001
NM_152263.4(TPM3):c.854+20G>A rs1300002756 0.00001
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=) rs746453011
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=) rs1272236852
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=) rs933857323
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=) rs921429381
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=) rs763934978
NM_000257.4(MYH7):c.4953+13A>T rs373509029
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) rs28933098
NM_000540.3(RYR1):c.12013-18C>A rs377516769
NM_000540.3(RYR1):c.12846C>T (p.Leu4282=) rs1184700540
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.46-4G>A rs201094741
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=) rs1193082244
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_152263.4(TPM3):c.*1130C>T rs143058197
NM_152263.4(TPM3):c.*1246_*1247dup rs72189266
NM_152263.4(TPM3):c.*2147del rs68185418
NM_152263.4(TPM3):c.*5594G>T rs550606876
NM_152263.4(TPM3):c.117+14T>C
NM_152263.4(TPM3):c.118-11G>C
NM_152263.4(TPM3):c.118-20G>C
NM_152263.4(TPM3):c.159G>A (p.Gly53=)
NM_152263.4(TPM3):c.171G>A (p.Glu57=)
NM_152263.4(TPM3):c.243+17T>C
NM_152263.4(TPM3):c.273T>C (p.Arg91=) rs974189739
NM_152263.4(TPM3):c.36G>C (p.Leu12=)
NM_152263.4(TPM3):c.378-11A>G
NM_152263.4(TPM3):c.378-11A>T
NM_152263.4(TPM3):c.378-16G>T rs2148242406
NM_152263.4(TPM3):c.423G>A (p.Lys141=) rs2148242145
NM_152263.4(TPM3):c.495+10C>G rs1043806769
NM_152263.4(TPM3):c.495+12T>G
NM_152263.4(TPM3):c.495+13C>T rs2148241904
NM_152263.4(TPM3):c.495+9C>G rs1661789594
NM_152263.4(TPM3):c.510G>A (p.Leu170=)
NM_152263.4(TPM3):c.552T>C (p.Ala184=)
NM_152263.4(TPM3):c.556C>T (p.Leu186=) rs1203258070
NM_152263.4(TPM3):c.566+13C>T
NM_152263.4(TPM3):c.591G>A (p.Glu197=)
NM_152263.4(TPM3):c.612C>T (p.Asn204=)
NM_152263.4(TPM3):c.621T>G (p.Ser207=)
NM_152263.4(TPM3):c.636G>A (p.Ala212=)
NM_152263.4(TPM3):c.642+8C>G
NM_152263.4(TPM3):c.643-13A>C
NM_152263.4(TPM3):c.643-8_643-4del
NM_152263.4(TPM3):c.687T>C (p.Leu229=)
NM_152263.4(TPM3):c.706-11A>G rs752438266
NM_152263.4(TPM3):c.706-13A>G
NM_152263.4(TPM3):c.706-4C>T rs2148231499
NM_152263.4(TPM3):c.706-5C>G
NM_152263.4(TPM3):c.706-9T>A rs931328025
NM_152263.4(TPM3):c.714C>G (p.Thr238=)
NM_152263.4(TPM3):c.753A>G (p.Glu251=)
NM_152263.4(TPM3):c.775+15G>C
NM_152263.4(TPM3):c.775+7A>G
NM_152263.4(TPM3):c.776-15C>T
NM_152263.4(TPM3):c.776-6G>A
NM_152263.4(TPM3):c.776-6G>C
NM_152263.4(TPM3):c.780G>A (p.Glu260=) rs1661333585
NM_152263.4(TPM3):c.796C>T (p.Leu266=) rs189530777
NM_152263.4(TPM3):c.854+8T>C
NM_152263.4(TPM3):c.855-19T>G
NM_152263.4(TPM3):c.855-20A>G
NM_152263.4(TPM3):c.855-6A>T rs2148221842
NM_152263.4(TPM3):c.855-8T>A

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