List of variants reported as pathogenic for bone disorder by Gemeinschaftspraxis fuer Humangenetik Dresden

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000168.6(GLI3):c.2632del (p.Glu878fs)	rs2484380551
NM_001174147.2(LMX1B):c.58_100dup (p.Ala34fs)
NM_014112.5(TRPS1):c.3430del (p.Val1144fs)

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