ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences

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_000257.4(MYH7):c.1888C>A (p.Pro630Thr) rs397516124
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
NM_001267550.2(TTN):c.51444del (p.Asp17149fs) rs1362409861
NM_001267550.2(TTN):c.[62674G>A];[68984A>C]
NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)

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