ClinVar Miner

Variants in gene FGFR1 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.2153G>A (p.Arg718His) rs1415925468
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808

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