ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (587):
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Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_198271.5(LMOD3):c.1655C>A (p.Pro552His) rs145387235 0.01335
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys) rs754431075 0.00006
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp) rs759376455 0.00006
NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro) rs746484055 0.00005
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630 0.00003
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser) rs766934634 0.00002
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln) rs528386282 0.00002
NM_001267550.2(TTN):c.95434G>A (p.Gly31812Ser) rs754416007 0.00002
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126 0.00002
NM_000070.3(CAPN3):c.847A>G (p.Met283Val) rs756786521 0.00001
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu) rs138929547 0.00001
NM_004006.3(DMD):c.2365G>A (p.Glu789Lys) rs763844939 0.00001
NM_004006.3(DMD):c.7993A>G (p.Asn2665Asp) rs767634310 0.00001
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His) rs140510298 0.00001
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu) rs563800854 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_201384.3(PLEC):c.12146C>T (p.Thr4049Met) rs1277411906 0.00001
NM_000070.3(CAPN3):c.2440-75C>G rs184526584
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.4527G>C (p.Lys1509Asn)
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.1609G>A (p.Ala537Thr) rs774229699
NM_000540.3(RYR1):c.6650G>A (p.Gly2217Asp)
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.8773G>A (p.Glu2925Lys) rs2145638522
NM_000540.3(RYR1):c.9970G>T (p.Val3324Phe) rs761241693
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr) rs772348768
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter) rs2152961374
NM_001164508.2(NEB):c.20467-4del rs10687343
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.72688G>T (p.Glu24230Ter) rs2154170836
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn) rs1396483415
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) rs150200531
NM_007126.5(VCP):c.563C>T (p.Pro188Leu)
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr) rs1568280995
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_031157.4(HNRNPA1):c.743G>A (p.Gly248Asp)
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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