ClinVar Miner

List of variants reported as uncertain significance for Hypogonadotropic hypogonadism 2 with or without anosmia

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Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.*1026T>C rs542417198 0.00214
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00124
NM_023110.3(FGFR1):c.*1446A>C rs578094209 0.00081
NM_023110.3(FGFR1):c.-338T>G rs527518565 0.00077
NM_023110.2(FGFR1):c.-853G>C rs553799602 0.00064
NM_023110.3(FGFR1):c.-717C>T rs772480875 0.00052
NM_023110.3(FGFR1):c.*203G>A rs750732571 0.00051
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_023110.3(FGFR1):c.*391C>T rs764328455 0.00038
NM_023110.3(FGFR1):c.*1055C>T rs761124911 0.00035
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_023110.3(FGFR1):c.*2057C>T rs556829066 0.00031
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_023110.3(FGFR1):c.*2391A>G rs185729862 0.00024
NM_023110.3(FGFR1):c.-263G>C rs974672416 0.00023
NM_023110.3(FGFR1):c.*1711G>A rs567642271 0.00021
NM_023110.3(FGFR1):c.-270G>A rs578030717 0.00021
NM_023110.3(FGFR1):c.-741A>G rs971464879 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_023110.3(FGFR1):c.*345T>A rs751699851 0.00016
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_023110.3(FGFR1):c.*14G>A rs371776128 0.00010
NM_023110.3(FGFR1):c.*2407C>T rs758524862 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_023110.3(FGFR1):c.*957C>T rs941835357 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_023110.3(FGFR1):c.-320C>T rs1356662413 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_023110.3(FGFR1):c.-555G>A rs901616183 0.00006
NM_023110.2(FGFR1):c.-747C>G rs917928821 0.00004
NM_023110.3(FGFR1):c.*252G>A rs781117513 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.741C>T (p.Val247=) rs745325958 0.00004
NM_023110.3(FGFR1):c.*1286C>T rs886062909 0.00003
NM_023110.3(FGFR1):c.*1560C>T rs761096092 0.00003
NM_023110.3(FGFR1):c.*1965G>A rs886062907 0.00003
NM_023110.3(FGFR1):c.*2408C>T rs1004230937 0.00003
NM_023110.3(FGFR1):c.*262C>T rs915960243 0.00003
NM_023110.3(FGFR1):c.*70C>T rs886062918 0.00003
NM_023110.3(FGFR1):c.*762A>G rs886062914 0.00003
NM_023110.3(FGFR1):c.*802C>T rs938792635 0.00003
NM_023110.3(FGFR1):c.*991G>A rs866647792 0.00003
NM_023110.3(FGFR1):c.*913G>A rs886062912 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.2(FGFR1):c.-755C>G rs1225240095 0.00001
NM_023110.2(FGFR1):c.-849C>A rs1050158070 0.00001
NM_023110.3(FGFR1):c.*1086A>T rs1287148499 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.*1149G>A rs923197183 0.00001
NM_023110.3(FGFR1):c.*2445A>G rs1261528641 0.00001
NM_023110.3(FGFR1):c.*928G>A rs1814772534 0.00001
NM_023110.3(FGFR1):c.-444C>T rs1835972353 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.2187-14C>T rs1390439587 0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) rs527606454 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu) rs121913473 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.91+6G>T rs886062921 0.00001
NM_023110.3(FGFR1):c.*1124C>G rs561923573
NM_023110.3(FGFR1):c.*1144G>A rs886062911
NM_023110.3(FGFR1):c.*118C>T rs886062916
NM_023110.3(FGFR1):c.*1218T>C rs886062910
NM_023110.3(FGFR1):c.*1616T>G rs886062908
NM_023110.3(FGFR1):c.*1676G>A rs763761019
NM_023110.3(FGFR1):c.*1723C>T rs1200256665
NM_023110.3(FGFR1):c.*1823G>A rs1814497706
NM_023110.3(FGFR1):c.*1982A>C rs536000259
NM_023110.3(FGFR1):c.*212G>A rs1815042970
NM_023110.3(FGFR1):c.*231C>T rs1815036929
NM_023110.3(FGFR1):c.*313T>C rs886062915
NM_023110.3(FGFR1):c.*313T>G rs886062915
NM_023110.3(FGFR1):c.*494A>G rs562843836
NM_023110.3(FGFR1):c.*71A>G rs886062917
NM_023110.3(FGFR1):c.*819T>G rs1814814648
NM_023110.3(FGFR1):c.*845T>C rs886062913
NM_023110.3(FGFR1):c.*958G>A rs537880800
NM_023110.3(FGFR1):c.-116C>T rs1835923576
NM_023110.3(FGFR1):c.-117C>G rs994485282
NM_023110.3(FGFR1):c.-278C>A rs1835944475
NM_023110.3(FGFR1):c.-413G>A rs984098100
NM_023110.3(FGFR1):c.-434G>A rs941457992
NM_023110.3(FGFR1):c.-466C>T rs1835975713
NM_023110.3(FGFR1):c.-522G>T rs1208796305
NM_023110.3(FGFR1):c.-552C>G rs1835988153
NM_023110.3(FGFR1):c.1016A>G (p.Tyr339Cys)
NM_023110.3(FGFR1):c.1037C>G (p.Ser346Cys)
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs) rs727505371
NM_023110.3(FGFR1):c.1058C>T (p.Ser353Phe)
NM_023110.3(FGFR1):c.1063T>C (p.Trp355Arg)
NM_023110.3(FGFR1):c.1072G>C (p.Val358Leu) rs774768179
NM_023110.3(FGFR1):c.113dup (p.Glu39fs)
NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala) rs1817948350
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
NM_023110.3(FGFR1):c.1279G>T (p.Val427Leu)
NM_023110.3(FGFR1):c.1285G>T (p.Val429Leu)
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His) rs121909637
NM_023110.3(FGFR1):c.1447C>A (p.Pro483Thr) rs397515444
NM_023110.3(FGFR1):c.1474G>A (p.Val492Met)
NM_023110.3(FGFR1):c.1612A>G (p.Ile538Val)
NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.3(FGFR1):c.1713G>A (p.Glu571=) rs1816417552
NM_023110.3(FGFR1):c.1829G>T (p.Gly610Val)
NM_023110.3(FGFR1):c.1835A>G (p.Glu612Gly)
NM_023110.3(FGFR1):c.185_199del (p.Gln62_Trp66del) rs2150962421
NM_023110.3(FGFR1):c.1862A>C (p.His621Pro) rs2150565397
NM_023110.3(FGFR1):c.1871T>C (p.Leu624Pro) rs1586113652
NM_023110.3(FGFR1):c.1909A>G (p.Met637Val) rs2150563224
NM_023110.3(FGFR1):c.1936C>G (p.Arg646Gly)
NM_023110.3(FGFR1):c.2054C>G (p.Ser685Cys)
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2062G>T (p.Val688Leu)
NM_023110.3(FGFR1):c.2099C>T (p.Pro700Leu)
NM_023110.3(FGFR1):c.2102A>G (p.Tyr701Cys)
NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg) rs768957161
NM_023110.3(FGFR1):c.2146G>T (p.Gly716Cys)
NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)
NM_023110.3(FGFR1):c.2206T>C (p.Cys736Arg) rs1554546677
NM_023110.3(FGFR1):c.2263G>C (p.Asp755His)
NM_023110.3(FGFR1):c.2302G>C (p.Asp768His) rs121909644
NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr) rs121909644
NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)
NM_023110.3(FGFR1):c.239G>C (p.Arg80Pro)
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
NM_023110.3(FGFR1):c.284A>G (p.Asp95Gly)
NM_023110.3(FGFR1):c.286T>C (p.Ser96Pro)
NM_023110.3(FGFR1):c.305T>G (p.Val102Gly)
NM_023110.3(FGFR1):c.317C>T (p.Pro106Leu)
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu) rs1413642890
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) rs2150914598
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg) rs2150912609
NM_023110.3(FGFR1):c.564_565delinsTT (p.Arg189Cys)
NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys) rs863223331
NM_023110.3(FGFR1):c.591C>A (p.Phe197Leu)
NM_023110.3(FGFR1):c.604A>G (p.Arg202Gly)
NM_023110.3(FGFR1):c.606A>T (p.Arg202Ser) rs2150910084
NM_023110.3(FGFR1):c.619A>G (p.Lys207Glu)
NM_023110.3(FGFR1):c.694G>A (p.Val232Met)
NM_023110.3(FGFR1):c.700A>G (p.Asn234Asp)
NM_023110.3(FGFR1):c.764C>T (p.Pro255Leu)
NM_023110.3(FGFR1):c.817G>A (p.Val273Met) rs1131691929
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_023110.3(FGFR1):c.841A>G (p.Ser281Gly)
NM_023110.3(FGFR1):c.848C>G (p.Pro283Arg)
NM_023110.3(FGFR1):c.854C>G (p.Pro285Arg)
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.863A>T (p.Gln288Leu) rs2150818410
NM_023110.3(FGFR1):c.887A>T (p.Asn296Ile)
NM_023110.3(FGFR1):c.92-3C>T rs1822349929

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