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: 33
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278 0.00002
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
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.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_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.665T>C (p.Met222Thr)
NM_001458.5(FLNC):c.733G>A (p.Val245Met)
NM_001458.5(FLNC):c.752T>C (p.Met251Thr) rs387906586
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006790.3(MYOT):c.284G>T (p.Ser95Ile) rs121908460
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_031157.4(HNRNPA1):c.1064-63_*4+37del
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys) rs1008642

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