List of variants reported as pathogenic for hyperostosis by Fulgent Genetics, Fulgent Genetics

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		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)	rs772690312	0.00002
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	rs72651642	0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)	rs72653170	0.00001
NM_002334.4(LRP4):c.316+1G>A	rs780336679	0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)	rs886043590	0.00001
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	rs72648326
NM_000088.4(COL1A1):c.1299+1G>A	rs66490707
NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg)	rs72648344
NM_000088.4(COL1A1):c.1646del (p.Pro549fs)	rs1907351704
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	rs1351742344
NM_000088.4(COL1A1):c.1821+1G>A	rs66555264
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)	rs72651645
NM_000088.4(COL1A1):c.2343+1G>A	rs1114167378
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	rs67879854
NM_000088.4(COL1A1):c.2597del (p.Gly866fs)
NM_000088.4(COL1A1):c.288del (p.Asp97fs)	rs2144593759
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	rs72653173
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)	rs1555571916
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	rs72645321
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)	rs72645357
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)	rs119103290
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu)	rs119103287
NM_000127.3(EXT1):c.1468dup (p.Leu490fs)	rs886039355
NM_000127.3(EXT1):c.538_539del (p.Leu181fs)	rs886039486
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)	rs121908661
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)	rs2098614719
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)	rs121918279
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter)	rs121918281
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)	rs121918280
NM_207122.2(EXT2):c.906_907dup (p.His303fs)	rs886041199

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