ClinVar Miner

List of variants in gene FGFR3 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Total variants: 10
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HGVS dbSNP
FGFR3, FGFR3/IGH FUSION
NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) rs28931614
NM_001163213.1(FGFR3):c.1178C>A (p.Ala393Glu) rs28931615
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001163213.1(FGFR3):c.1954A>G (p.Lys652Glu) rs78311289
NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr) rs121913105
NM_001163213.1(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg) rs4647924

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