ClinVar Miner

List of variants studied for Acromesomelic dysplasia 2C, Hunter-Thompson type; Type A2 brachydactyly; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)	rs760180391
NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)
NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter)	rs764122274

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