ClinVar Miner

List of variants studied for Desmin-related myofibrillar myopathy by 3billion, Medical Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.1031C>G (p.Ser344Cys)
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)	rs2125168730
NM_001927.4(DES):c.1289-2A>G	rs398122940
NM_001927.4(DES):c.735+2T>G

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