List of variants reported as pathogenic for bone development disease by Genomics England Pilot Project, Genomics England

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	rs72645366
NM_000088.4(COL1A1):c.3046-1G>T	rs67965462
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	rs1554395833

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