List of variants reported as pathogenic for bone development disease by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)	rs121908171	0.00037
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)	rs121918376	0.00014
NM_006907.4(PYCR1):c.59dup (p.Ala21fs)	rs762218403	0.00001
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)	rs121913479
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)	rs121913103
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)	rs1057517732
NM_004380.3(CREBBP):c.2840_2862del (p.Gln947fs)
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs)	rs1554680245

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