ClinVar Miner

List of variants reported as likely pathogenic for Myopathy by Institute of Human Genetics, University of Wuerzburg

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004006.3(DMD):c.5060del (p.Asn1687fs)
NM_017534.6(MYH2):c.3768del (p.Thr1257fs)	rs2073373034
NM_017534.6(MYH2):c.5510dup (p.Arg1838fs)	rs1297291974

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