List of variants studied for Desmin-related myofibrillar myopathy by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.1063C>T (p.Arg355Ter)	rs762808690	0.00001
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	rs121913003
NM_001927.4(DES):c.1396C>T (p.Gln466Ter)
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
NM_001927.4(DES):c.347A>G (p.Asn116Ser)	rs267607499
NM_001927.4(DES):c.735+1G>A	rs397516698
NM_001927.4(DES):c.735+1G>C	rs397516698
NM_001927.4(DES):c.985C>T (p.Gln329Ter)	rs759320891

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