ClinVar Miner

List of variants in gene FGFR2 reported as uncertain significance for FGFR2 related craniosynostosis

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Total variants: 12
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HGVS dbSNP
NC_000010.10:g.(?_123353203)_(123353351_?)del
NM_022970.3(FGFR2):c.1087+1268G>A
NM_022970.3(FGFR2):c.1087+1291_1087+1292delinsAA rs1554928905
NM_022970.3(FGFR2):c.1087+1313G>A rs1554928838
NM_022970.3(FGFR2):c.1087+1363_1087+1364insTCAACA rs1554928786
NM_022970.3(FGFR2):c.1756G>C (p.Glu586Gln) rs1564875398
NM_022970.3(FGFR2):c.1821C>T (p.Cys607=) rs371395564
NM_022970.3(FGFR2):c.2155G>A (p.Glu719Lys)
NM_022970.3(FGFR2):c.823G>C (p.Glu275Gln) rs1258584689
NM_022970.3(FGFR2):c.834C>G (p.Cys278Trp) rs1554930790
NM_022970.3(FGFR2):c.902A>G (p.Tyr301Cys) rs1554930684
NM_022970.3(FGFR2):c.910G>A (p.Asp304Asn)

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