ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616 0.00016
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00004
NM_023110.3(FGFR1):c.243C>T (p.Ile81=) rs764340351 0.00002
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 0.00001
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup) rs138489552

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