List of variants reported as pathogenic for bone development disease by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)	rs758903488	0.00001
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp)	rs1135401953
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])	rs74315111
NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp)	rs1131692320
NM_000141.5(FGFR2):c.1084+2T>C
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs)	rs1567309482
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter)	rs1564038539
NM_021224.6(ZNF462):c.3937del (p.His1313fs)
NM_207037.2(TCF12):c.786dup (p.Ser263fs)	rs1597483678

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