ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Clinical Genetics and Genomics, Karolinska University Hospital

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001267550.2(TTN):c.14170C>T (p.Gln4724Ter)
NM_001267550.2(TTN):c.43509del (p.Asp14505fs)

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