ClinVar Miner

List of variants reported as pathogenic for Hypogonadotropic hypogonadism 2 with or without anosmia by Reproductive Endocrine Unit, Massachusetts General Hospital

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1009G>C (p.Gly337Arg)
NM_023110.3(FGFR1):c.1039dup (p.Ile347fs)
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1063_1064dup (p.Trp355fs)
NM_023110.3(FGFR1):c.1081+1G>T
NM_023110.3(FGFR1):c.1152dup (p.Phe385fs)
NM_023110.3(FGFR1):c.1285-2A>G
NM_023110.3(FGFR1):c.1322_1334del (p.Val441fs)
NM_023110.3(FGFR1):c.1384dup (p.Glu462fs)
NM_023110.3(FGFR1):c.1430+1del
NM_023110.3(FGFR1):c.1519_1520insTTTGTTGG (p.Arg507fs)
NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter)
NM_023110.3(FGFR1):c.1553-2A>G
NM_023110.3(FGFR1):c.1589C>G (p.Ser530Ter)
NM_023110.3(FGFR1):c.165_171del (p.Arg56fs)
NM_023110.3(FGFR1):c.1673del (p.Tyr558fs)
NM_023110.3(FGFR1):c.1684G>T (p.Glu562Ter)
NM_023110.3(FGFR1):c.1727_1734del (p.Arg576fs)
NM_023110.3(FGFR1):c.1755C>A (p.Tyr585Ter)
NM_023110.3(FGFR1):c.1809C>A (p.Cys603Ter)
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1854+1G>A
NM_023110.3(FGFR1):c.1855-2A>C
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1889T>C (p.Leu630Pro)
NM_023110.3(FGFR1):c.1898_1899del (p.Glu633fs) rs1815805060
NM_023110.3(FGFR1):c.1916T>C (p.Ile639Thr) rs727505370
NM_023110.3(FGFR1):c.1962dup (p.Lys655Ter)
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.1997G>A (p.Trp666Ter)
NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys) rs397515446
NM_023110.3(FGFR1):c.2036del (p.His679fs)
NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.3(FGFR1):c.2058del (p.Phe686fs)
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter) rs2150533516
NM_023110.3(FGFR1):c.2190_2191dup (p.Met731fs)
NM_023110.3(FGFR1):c.2293-1G>T
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys) rs727505373
NM_023110.3(FGFR1):c.355dup (p.Ser119fs)
NM_023110.3(FGFR1):c.551dup (p.Asn185fs)
NM_023110.3(FGFR1):c.570G>A (p.Trp190Ter)
NM_023110.3(FGFR1):c.630T>A (p.Tyr210Ter)
NM_023110.3(FGFR1):c.630T>G (p.Tyr210Ter)
NM_023110.3(FGFR1):c.70del (p.Ser24fs)
NM_023110.3(FGFR1):c.710G>A (p.Gly237Asp)
NM_023110.3(FGFR1):c.748C>T (p.Arg250Trp) rs2150826896
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645
NM_023110.3(FGFR1):c.92-1G>T
NM_023110.3(FGFR1):c.925C>T (p.Gln309Ter)
NM_023110.3(FGFR1):c.94_95dup (p.Gln32fs)
NM_023110.3(FGFR1):c.962_963del (p.Lys321fs) rs2150758220

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