ClinVar Miner

List of variants reported as pathogenic for hereditary skeletal muscle disorder by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter) rs17854600 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_004320.6(ATP2A1):c.2862+1G>A rs755227074 0.00002
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs) rs1553552413 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) rs104893632 0.00001
NM_000070.3(CAPN3):c.1745+1G>A
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.8226del (p.Thr2743fs)
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) rs118192156
NM_001130987.2(DYSF):c.2258_2259del (p.His753fs)
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.98603del (p.Phe32868fs)
NM_001848.3(COL6A1):c.1006del
NM_001848.3(COL6A1):c.428+1G>A rs1569517717
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs) rs778568339
NM_004006.3(DMD):c.1006G>T (p.Glu336Ter) rs1057522454
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10484T>A (p.Leu3495Ter)
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter) rs1057518962
NM_004006.3(DMD):c.1873C>T (p.Gln625Ter) rs2051634469
NM_004006.3(DMD):c.2623-2A>G rs2148584710
NM_004006.3(DMD):c.3305_3308dup (p.Ser1104fs)
NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter) rs886044406
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter) rs868836192
NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter) rs745640786
NM_004006.3(DMD):c.4474_4475del (p.Ser1492fs)
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter) rs748769566
NM_004006.3(DMD):c.457C>T (p.Gln153Ter) rs886042983
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.5637G>A (p.Trp1879Ter) rs865856945
NM_004006.3(DMD):c.875del (p.Pro292fs)
NM_004006.3(DMD):c.985_991del (p.Ser329fs)
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_025207.5(FLAD1):c.442C>T (p.Arg148Ter)
NM_152490.5(B3GALNT2):c.261-2A>G
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)

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