List of variants reported as pathogenic for Osteosclerotic metaphyseal dysplasia

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024652.6(LRRK1):c.261G>A (p.Lys87=)	rs2141653795
NM_024652.6(LRRK1):c.2785G>T (p.Glu929Ter)	rs766875506
NM_024652.6(LRRK1):c.4480C>T (p.Arg1494Ter)	rs1258583719
NM_024652.6(LRRK1):c.5939_5945del (p.Glu1980fs)	rs886038213
NM_024652.6(LRRK1):c.5971dup (p.Ala1991fs)	rs2141168796

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