ClinVar Miner

List of variants reported as likely benign for hypogonadotropic hypogonadism 2 with or without anosmia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00398
NM_023110.3(FGFR1):c.-209G>C rs572216432 0.00306
NM_023110.3(FGFR1):c.*906A>T rs139347382 0.00249
NM_023110.3(FGFR1):c.*1439T>C rs11990198 0.00186
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_023110.3(FGFR1):c.*1822A>C rs570038633 0.00031
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736

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