List of variants reported as pathogenic for bone development disease by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)	rs1592202517
NM_003036.4(SKI):c.91T>C (p.Ser31Pro)	rs1569656981
NM_004247.4(EFTUD2):c.1058+1G>A	rs1085307647
NM_004247.4(EFTUD2):c.2562-2_2562-1del	rs2050474390
NM_006766.5(KAT6A):c.1903-5_1903-2del	rs1587727050
NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs)	rs2061224553

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