List of variants reported as pathogenic for bone disorder by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)	rs201284672	0.00014
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	rs104894637	0.00011
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	rs75822236	0.00006
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152	0.00005
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)	rs886040971
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	rs1213286417
Single allele

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