List of variants in gene FGFR1 reported as likely benign for Craniosynostosis syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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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	0.00077
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)	rs140382957	0.00043
NM_023110.3(FGFR1):c.1553-13G>A	rs17182414	0.00040
NM_023110.3(FGFR1):c.359-4A>G	rs185233212	0.00027
NM_023110.3(FGFR1):c.168G>A (p.Arg56=)	rs147482922	0.00021
NM_023110.3(FGFR1):c.1082-13C>T	rs185831613	0.00015
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=)	rs375796487	0.00014
NM_023110.3(FGFR1):c.*14G>A	rs371776128	0.00010
NM_023110.3(FGFR1):c.273C>T (p.Ser91=)	rs201823433	0.00009
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)	rs377620009	0.00007
NM_023110.3(FGFR1):c.742G>A (p.Val248Met)	rs186746130	0.00004
NM_023110.3(FGFR1):c.449-7C>T	rs754454127	0.00003
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr)	rs747978107	0.00001
NM_023110.3(FGFR1):c.*494A>G	rs562843836
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)	rs771078736

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