List of variants reported as likely pathogenic for osteoglophonic dwarfism

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)	rs17175750	0.00001
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	rs121909641
NM_023110.3(FGFR1):c.1469G>T (p.Gly490Val)	rs1586172462
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)	rs1554570813
NM_023110.3(FGFR1):c.448+1G>A	rs376416531
NM_023110.3(FGFR1):c.448+1G>C	rs376416531
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)	rs727505369
NM_023110.3(FGFR1):c.917C>T (p.Pro306Leu)	rs1586287963

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