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) rs2150755633
NM_023110.3(FGFR1):c.1039dup (p.Ile347fs) rs2537020226
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1063_1064dup (p.Trp355fs) rs2537019323
NM_023110.3(FGFR1):c.1081+1G>T rs2150751795
NM_023110.3(FGFR1):c.1152dup (p.Phe385fs) rs2536965692
NM_023110.3(FGFR1):c.1285-2A>G rs2150680264
NM_023110.3(FGFR1):c.1322_1334del (p.Val441fs) rs2536930338
NM_023110.3(FGFR1):c.1384dup (p.Glu462fs) rs2536928420
NM_023110.3(FGFR1):c.1430+1del rs2536926716
NM_023110.3(FGFR1):c.1519_1520insTTTGTTGG (p.Arg507fs) rs2536912033
NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter) rs2150964621
NM_023110.3(FGFR1):c.1553-2A>G rs2150631395
NM_023110.3(FGFR1):c.1589C>G (p.Ser530Ter) rs1554551706
NM_023110.3(FGFR1):c.165_171del (p.Arg56fs) rs2537268171
NM_023110.3(FGFR1):c.1673del (p.Tyr558fs) rs2536855900
NM_023110.3(FGFR1):c.1684G>T (p.Glu562Ter) rs2150591547
NM_023110.3(FGFR1):c.1727_1734del (p.Arg576fs) rs2536853592
NM_023110.3(FGFR1):c.1755C>A (p.Tyr585Ter) rs2150586919
NM_023110.3(FGFR1):c.1809C>A (p.Cys603Ter) rs377314381
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1854+1G>A rs2150581545
NM_023110.3(FGFR1):c.1855-2A>C rs1554548434
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1889T>C (p.Leu630Pro) rs2536819511
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) rs2536817156
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.1997G>A (p.Trp666Ter) rs1489129465
NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys) rs397515446
NM_023110.3(FGFR1):c.2036del (p.His679fs) rs2536804249
NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.3(FGFR1):c.2058del (p.Phe686fs) rs2536789999
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) rs2536777334
NM_023110.3(FGFR1):c.2293-1G>T rs2150512605
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs) rs2537263906
NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys) rs727505373
NM_023110.3(FGFR1):c.355dup (p.Ser119fs) rs2537257570
NM_023110.3(FGFR1):c.551dup (p.Asn185fs) rs2537194228
NM_023110.3(FGFR1):c.570G>A (p.Trp190Ter) rs2150911849
NM_023110.3(FGFR1):c.630T>A (p.Tyr210Ter) rs1400969239
NM_023110.3(FGFR1):c.630T>G (p.Tyr210Ter) rs1400969239
NM_023110.3(FGFR1):c.70del (p.Ser24fs) rs2537841227
NM_023110.3(FGFR1):c.710G>A (p.Gly237Asp) rs2150859908
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 rs2150967659
NM_023110.3(FGFR1):c.925C>T (p.Gln309Ter) rs2150813223
NM_023110.3(FGFR1):c.94_95dup (p.Gln32fs) rs2537272542
NM_023110.3(FGFR1):c.962_963del (p.Lys321fs) rs2150758220

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