ClinVar Miner

List of variants reported as risk factor for Hypogonadotropic hypogonadism 2 with anosmia

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Total variants: 12
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HGVS dbSNP
FGFR1, 2-BP DEL, 1970CA
FGFR1, 936G-A
FGFR1, TRP666ARG
NM_023110.2(FGFR1):c.1025T>C (p.Leu342Ser) rs121909638
NM_023110.2(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1317_1318del (p.Val441fs) rs587776835
NM_023110.2(FGFR1):c.1447C>A (p.Pro483Thr) rs397515444
NM_023110.2(FGFR1):c.1819G>A (p.Val607Met) rs121909629
NM_023110.2(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.2(FGFR1):c.2008G>A (p.Glu670Lys) rs397515446
NM_023110.2(FGFR1):c.2075A>G (p.Glu692Gly) rs397515445

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