ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by KardioGenetik, Herz- und Diabeteszentrum NRW

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu) rs757119133 0.00003
NM_001267550.2(TTN):c.5308A>G (p.Arg1770Gly) rs780733773 0.00003
NM_001267550.2(TTN):c.4639G>A (p.Val1547Met) rs750678272 0.00002
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001267550.2(TTN):c.100868del (p.Pro33623fs)
NM_001267550.2(TTN):c.14314dup (p.Cys4772fs)
NM_001267550.2(TTN):c.33501AGA[7] (p.Glu11172_Tyr11173insGluGlu)
NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter) rs1227198694
NM_001267550.2(TTN):c.46905T>A (p.Tyr15635Ter)
NM_001267550.2(TTN):c.57611_57612del (p.Thr19204fs)
NM_001267550.2(TTN):c.5829_5830delinsGT (p.Glu1944Ter)
NM_001267550.2(TTN):c.58780del (p.Asp19594fs)
NM_001267550.2(TTN):c.64244G>A (p.Trp21415Ter)
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.78322C>T (p.Gln26108Ter)
NM_001267550.2(TTN):c.85486del (p.Ala28497fs) rs2154158948
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter) rs200314496
NM_001267550.2(TTN):c.95747_95753del (p.Pro31916fs)
NM_001267550.2(TTN):c.98722_98738del (p.Asp32908fs)

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