List of variants studied for bone disorder by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)
GRCh37/hg19 7p14.1(chr7:42115857-42116915)
GRCh37/hg19 7p21.1(chr7:19152100-19157785)
GRCh37/hg19 8q21.12-21.13(chr8:79982581-80674788)
GRCh37/hg19 8q23.3-24.11(chr8:115662767-117718250)
GRCh37/hg19 9q33.3(chr9:129376720-129463802)
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)	rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)	rs121918499
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000168.6(GLI3):c.368-459_473+494del
NM_000474.4(TWIST1):c.451C>G (p.Leu151Val)	rs2115396601
NM_001024630.4(RUNX2):c.407_411del (p.Leu136fs)	rs2150362655
NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs)	rs1164577355
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del)	rs775004286
NM_002449.5(MSX2):c.441_442dup (p.Pro148fs)	rs2480603008
NM_004465.2(FGF10):c.237G>A (p.Trp79Ter)	rs2478542924
NM_014780.5(CUL7):c.1651C>T (p.Leu551Phe)	rs905431266
NM_207037.2(TCF12):c.791del (p.Ser264fs)

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