List of variants studied for bone development disease by Provincial Medical Genetics Program of British Columbia, University of British Columbia

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu)	rs371793829	0.00001
NM_000089.4(COL1A2):c.2935G>C (p.Gly979Arg)	rs2115952631
NM_000346.4(SOX9):c.686-2A>G	rs2143250007
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)	rs121434626
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)	rs1596812306
NM_031263.4(HNRNPK):c.203T>C (p.Leu68Pro)	rs1588432187
NM_207037.2(TCF12):c.268C>T (p.Arg90Ter)	rs747222651

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