List of variants studied for bone development disease by Genomics England Pilot Project, Genomics England

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	rs72645366
NM_000088.4(COL1A1):c.1200+1del	rs2144576696
NM_000088.4(COL1A1):c.3046-1G>T	rs67965462
NM_000088.4(COL1A1):c.3207+1_3207+2del	rs1064796200
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)	rs72645355
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	rs66619856
NM_000089.4(COL1A2):c.326G>T (p.Gly109Val)	rs1114167416
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	rs1554395833
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)	rs67525025
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001854.4(COL11A1):c.2755-2A>G	rs2101653580
NM_005869.4(CWC27):c.1002dup (p.Val335fs)	rs752159903

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