List of variants reported as likely pathogenic for bone disorder by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000007.14:g.26544156_26548212del
NM_000141.5(FGFR2):c.1600G>A (p.Glu534Lys)	rs2133975330
NM_001844.5(COL2A1):c.293-2A>T	rs2540183621
NM_003394.4(WNT10B):c.638T>G (p.Phe213Cys)
NM_005445.4(SMC3):c.3442G>T (p.Ala1148Ser)	rs2134754195
NM_005461.5(MAFB):c.173C>G (p.Thr58Arg)	rs1600429281
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	rs147001633
NM_133433.4(NIPBL):c.5808+5G>A	rs2149704635
NM_133433.4(NIPBL):c.6166C>A (p.Pro2056Thr)	rs2149730828

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