ClinVar Miner

List of variants in gene FGFR1 reported as likely benign for Osteoglophonic dysplasia

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_023110.3(FGFR1):c.-338T>G rs527518565 0.00071
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00062
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_023110.3(FGFR1):c.*14G>A rs371776128 0.00005
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736

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