List of variants in gene FGFR1 reported as benign for syndromic craniosynostosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.2187-6C>T	rs4647904	0.01503
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)	rs56234888	0.01307
NM_023110.3(FGFR1):c.600C>T (p.Asp200=)	rs17175898	0.00782
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)	rs56341011	0.00711
NM_023110.3(FGFR1):c.345C>T (p.Ser115=)	rs2915665	0.00567
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	rs148480919	0.00153
NM_023110.3(FGFR1):c.449-9C>G	rs17182303	0.00115
NM_023110.3(FGFR1):c.1081+20C>T	rs17175982	0.00092
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)	rs56174879	0.00079
NM_023110.3(FGFR1):c.1855-16C>T	rs371160786	0.00071
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)	rs140382957	0.00043
NM_023110.3(FGFR1):c.1854+19C>T	rs199830036	0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)	rs201490643	0.00041
NM_023110.3(FGFR1):c.1553-13G>A	rs17182414	0.00040
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)	rs150652786	0.00034
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)	rs374507681	0.00029
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)	rs144131616	0.00016
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile)	rs55642501	0.00016
NM_023110.3(FGFR1):c.75G>A (p.Pro25=)	rs17175757	0.00010
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)	rs369356672	0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=)	rs17182296	0.00009
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)	rs746123129	0.00008
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=)	rs552562422	0.00008
NM_023110.3(FGFR1):c.359-13C>G	rs376369060	0.00007
NM_023110.3(FGFR1):c.1285-15C>T	rs760069564	0.00006
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=)	rs56273573	0.00004
NM_023110.3(FGFR1):c.449-8C>A	rs551551806	0.00004
NM_023110.3(FGFR1):c.92-14C>T	rs547772178	0.00004
NM_023110.3(FGFR1):c.448+20C>T	rs767029419	0.00002
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)	rs546318124	0.00001
NM_023110.3(FGFR1):c.359-7C>T	rs749216266	0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)	rs17175750	0.00001
NM_023110.3(FGFR1):c.1430+7_1430+9del	rs772340109
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)

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