ClinVar Miner

List of variants reported as pathogenic for autosomal dominant distal myopathy by OMIM

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
DES, 3-BP DEL, 720GAA
DES, GLU359-ALA360-SER361 DEL
DES, IVS2, G-A, -1
DES, IVS3DS, A-G, +3
NM_001135940.2(MYOT):c.-197+305C>T rs121908458
NM_001135940.2(MYOT):c.-197+410G>T rs121908460
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001289808.2(CRYAB):c.325G>C (p.Asp109His) rs387907339
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly) rs104894201
NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter) rs104894202
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs) rs1566402514
NM_001289808.2(CRYAB):c.60del (p.Ser21fs) rs281865141
NM_001458.4(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.4(FLNC):c.752T>C (p.Met251Thr) rs387906586
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1078G>C (p.Ala360Pro) rs121913000
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys) rs281864927
NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.2(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006790.2(MYOT):c.17G>A (p.Arg6His) rs387906882
NM_007078.3(LDB3):c.690-4678C>T rs121908334
NM_007078.3(LDB3):c.690-4733G>A rs121908333
NM_007078.3(LDB3):c.896+6753C>T rs121908335
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278
NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) rs116840778
NM_033337.2(CAV3):c.99C>G (p.Asn33Lys) rs1008642

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