ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Clinical Genetics Laboratory, Region Ostergotland

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_001267550.2(TTN):c.47385dup (p.Glu15796Ter)
NM_001267550.2(TTN):c.73200del (p.Ile24399_Tyr24400insTer)
NM_001267550.2(TTN):c.77604T>G (p.Tyr25868Ter) rs752137856

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