ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, musculocontractural type 2

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_013352.4(DSE):c.799A>G (p.Arg267Gly)	rs1554227382
NM_013352.4(DSE):c.803C>T (p.Ser268Leu)	rs398122361
NM_013352.4(DSE):c.874C>T (p.Gln292Ter)

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