List of variants reported as pathogenic for dysostosis by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)	rs121918487
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val)	rs1564919048
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)	rs121918504
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs)	rs1601621506
NM_001429.4(EP300):c.3905dup (p.Glu1303fs)	rs2059152743
NM_004247.4(EFTUD2):c.1414-2A>G	rs1597797917
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs)	rs1596812256
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)	rs1596783639
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)	rs1554843815

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