List of variants in gene FGFR1 reported as likely pathogenic by GeneDx

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr)	rs777345476	0.00003
NM_023110.3(FGFR1):c.1010G>A (p.Gly337Glu)	rs1064793122
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met)	rs1064793123
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg)	rs121909634
NM_023110.3(FGFR1):c.1601TGA[1] (p.Met535del)	rs1554551657
NM_023110.3(FGFR1):c.184C>T (p.Gln62Ter)	rs1586379523
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln)	rs1815818452
NM_023110.3(FGFR1):c.1936C>T (p.Arg646Trp)	rs753193082
NM_023110.3(FGFR1):c.1977+1G>A	rs876661334
NM_023110.3(FGFR1):c.1977+4A>T	rs1554548102
NM_023110.3(FGFR1):c.2062G>C (p.Val688Leu)	rs1057518060
NM_023110.3(FGFR1):c.2073G>T (p.Trp691Cys)	rs1057524546
NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro)	rs1815455535
NM_023110.3(FGFR1):c.2155A>G (p.Met719Val)	rs1085307879
NM_023110.3(FGFR1):c.448+1G>C	rs376416531
NM_023110.3(FGFR1):c.664_665insA (p.Pro222fs)	rs1586315809
NM_023110.3(FGFR1):c.817G>A (p.Val273Met)	rs1131691929
NM_023110.3(FGFR1):c.836T>G (p.Val279Gly)	rs1064793121

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