ClinVar Miner

List of variants in gene FGFR3 studied for Crouzon syndrome-acanthosis nigricans syndrome

Included ClinVar conditions (4):
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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.4(FGFR3):c.1331C>T (p.Ser444Phe)
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.4(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330
NM_000142.4(FGFR3):c.200G>A (p.Gly67Asp) rs369232922
NM_000142.4(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438
NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.4(FGFR3):c.739G>A (p.Glu247Lys) rs565612580
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg) rs4647924

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