List of variants reported as pathogenic for hypogonadotropic hypogonadism 2 with or without anosmia

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 100

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)	rs145434725	0.00002
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)	rs765615419	0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His)	rs515726222	0.00001
GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1
NC_000008.10:g.(?_37595441)_(38961219_?)del
NC_000008.10:g.(?_38314854)_(38314964_?)del
NC_000008.11:g.(?_38424489)_(38461126_?)del
NM_023110.3(FGFR1):c.1009G>C (p.Gly337Arg)
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs)	rs727505371
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.111del (p.Val38fs)
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg)	rs121909634
NM_023110.3(FGFR1):c.1152dup (p.Phe385fs)
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs)	rs2150705198
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.142G>A (p.Gly48Ser)	rs121909640
NM_023110.3(FGFR1):c.1430+1G>A	rs1554552774
NM_023110.3(FGFR1):c.1430+1G>T	rs1554552774
NM_023110.3(FGFR1):c.1430+1del
NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)
NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp)	rs515726224
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg)	rs869025670
NM_023110.3(FGFR1):c.1512del (p.Lys504fs)	rs1817280576
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.1568_1569dup (p.Asp524fs)
NM_023110.3(FGFR1):c.1589C>G (p.Ser530Ter)
NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)
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.1711del (p.Glu571fs)	rs1060499663
NM_023110.3(FGFR1):c.1727_1734del (p.Arg576fs)
NM_023110.3(FGFR1):c.1755C>A (p.Tyr585Ter)
NM_023110.3(FGFR1):c.1761_1777del (p.Ser588fs)
NM_023110.3(FGFR1):c.1809C>A (p.Cys603Ter)
NM_023110.3(FGFR1):c.1820dup (p.Ala608fs)	rs1816367128
NM_023110.3(FGFR1):c.1823C>A (p.Ala608Asp)	rs1816366242
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)	rs121909639
NM_023110.3(FGFR1):c.1854+1G>A
NM_023110.3(FGFR1):c.1855-1G>A	rs2150565807
NM_023110.3(FGFR1):c.1855-2A>C
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)	rs121909628
NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)
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.1946del (p.His649fs)
NM_023110.3(FGFR1):c.1948del (p.His650fs)
NM_023110.3(FGFR1):c.1962dup (p.Lys655Ter)
NM_023110.3(FGFR1):c.1969dup (p.Thr657fs)
NM_023110.3(FGFR1):c.1977+1G>A	rs876661334
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)	rs776264072
NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)
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.2048T>G (p.Val683Gly)
NM_023110.3(FGFR1):c.2058del (p.Phe686fs)
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg)	rs727505376
NM_023110.3(FGFR1):c.206_210dup (p.Val71fs)
NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile)	rs515726225
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter)	rs2150533516
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)	rs1554570813
NM_023110.3(FGFR1):c.2190_2191dup (p.Met731fs)
NM_023110.3(FGFR1):c.2292G>T (p.Gln764His)	rs121909643
NM_023110.3(FGFR1):c.2293-1G>T
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)
NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys)	rs727505373
NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)
NM_023110.3(FGFR1):c.355dup (p.Ser119fs)
NM_023110.3(FGFR1):c.551dup (p.Asn185fs)
NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys)	rs863223331
NM_023110.3(FGFR1):c.570G>A (p.Trp190Ter)
NM_023110.3(FGFR1):c.625del (p.Arg209fs)
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.755C>G (p.Pro252Arg)	rs121909627
NM_023110.3(FGFR1):c.780del (p.Leu261fs)
NM_023110.3(FGFR1):c.790A>C (p.Asn264His)	rs515726223
NM_023110.3(FGFR1):c.817G>A (p.Val273Met)	rs1131691929
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
NM_023110.3(FGFR1):c.979_983del (p.His327fs)	rs2150757205
NM_144773.4(PROKR2):c.58del (p.His20fs)	rs587777834

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