ClinVar Miner

List of variants reported as pathogenic for hereditary skeletal muscle disorder by 3billion, Medical Genetics

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_152328.5(ADSS1):c.919del (p.Ile307fs) rs559454746 0.00003
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro) rs778022582 0.00002
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_000070.3(CAPN3):c.1524+1G>T rs1275289254
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter) rs2053910936
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1467+1G>T rs587783798
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs) rs1774572282
NM_000426.4(LAMA2):c.6636_6637del (p.Gly2213fs)
NM_000540.3(RYR1):c.6517C>T (p.Gln2173Ter) rs1486865637
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) rs1571893814
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) rs762398889
NM_001159699.2(FHL1):c.550-2A>G rs1556639352
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter) rs72646813
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001849.4(COL6A2):c.1817-2A>C
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser) rs727502828
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) rs199476146
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.1032T>A (p.Tyr344Ter) rs2146834581
NM_004006.3(DMD):c.130dup (p.Leu44fs)
NM_004006.3(DMD):c.355C>T (p.Gln119Ter) rs863224995
NM_004006.3(DMD):c.3630del (p.Glu1211fs) rs2098315232
NM_004006.3(DMD):c.4518+5G>A rs398123960
NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs) rs1603632119
NM_004006.3(DMD):c.5697del (p.Lys1899fs) rs794727661
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter) rs794727666
NM_004006.3(DMD):c.8086del (p.Leu2696fs) rs398124062
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004006.3(DMD):c.9457del (p.Cys3153fs) rs2148591945
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004369.4(COL6A3):c.6282+1G>A rs398124128
NM_004370.6(COL12A1):c.2252T>G (p.Leu751Ter)
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
NM_005198.5(CHKB):c.463del (p.Thr155fs) rs2146656234
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) rs267607163
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr) rs368751524
NM_152393.4(KLHL40):c.1281_1294del (p.Cys428fs) rs770267750
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro) rs886043260
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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