ClinVar Miner

List of variants reported as pathogenic for skeletal muscle disorder by Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere

Included ClinVar conditions (625):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001267550.2(TTN):c.100389C>A (p.Tyr33463Ter)
NM_001267550.2(TTN):c.1507C>T (p.Gln503Ter)
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter) rs1403485272
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.75435G>A (p.Trp25145Ter)
NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter) rs1559321340

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