ClinVar Miner

List of variants in gene LEPR studied for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002303.6(LEPR):c.370+16G>T rs2186248 0.99964
NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) rs1137101 0.50085
NM_002303.6(LEPR):c.3057G>A (p.Pro1019=) rs1805096 0.43140
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) rs1137100 0.25399
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_002303.6(LEPR):c.2597+15G>C rs6693573 0.01870
NM_002303.6(LEPR):c.3024A>G (p.Ser1008=) rs6413506 0.01632
NM_002303.6(LEPR):c.*232G>A rs116819844 0.01407
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_002303.6(LEPR):c.-20-15A>T rs116571599 0.00451
NM_002303.6(LEPR):c.36T>C (p.His12=) rs147768538 0.00286
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_002303.6(LEPR):c.*403T>C rs375886561 0.00185
NM_002303.6(LEPR):c.594G>A (p.Val198=) rs140347630 0.00072
NM_002303.6(LEPR):c.2260G>A (p.Val754Met) rs150936702 0.00071
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=) rs34130975 0.00054
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_002303.6(LEPR):c.2674-5935A>C rs551017633 0.00042
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_002303.6(LEPR):c.*153A>G rs147380894 0.00034
NM_002303.6(LEPR):c.*453C>T rs191470560 0.00030
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) rs142647085 0.00029
NM_002303.6(LEPR):c.*99A>G rs529659801 0.00028
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) rs145668112 0.00026
NM_002303.6(LEPR):c.611A>G (p.Lys204Arg) rs146442768 0.00023
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_002303.6(LEPR):c.1411C>A (p.Leu471Ile) rs143319015 0.00014
NM_002303.6(LEPR):c.2370A>C (p.Ser790=) rs13306528 0.00013
NM_002303.6(LEPR):c.*251G>T rs1032178127 0.00009
NM_002303.6(LEPR):c.*287G>C rs974484944 0.00009
NM_002303.6(LEPR):c.1166G>A (p.Ser389Asn) rs780534740 0.00006
NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser) rs200240836 0.00004
NM_002303.6(LEPR):c.1635A>G (p.Ala545=) rs199507516 0.00004
NM_002303.6(LEPR):c.345A>G (p.Val115=) rs773805917 0.00004
NM_002303.6(LEPR):c.1374G>A (p.Ala458=) rs768308728 0.00003
NM_002303.6(LEPR):c.2221G>A (p.Val741Met) rs532294036 0.00003
NM_002303.6(LEPR):c.704-8T>C rs183928195 0.00003
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val) rs753573139 0.00002
NM_002303.6(LEPR):c.1701C>T (p.Asn567=) rs2228301 0.00002
NM_002303.6(LEPR):c.536G>A (p.Gly179Asp) rs151190195 0.00002
NM_002303.6(LEPR):c.691C>T (p.Pro231Ser) rs776647803 0.00002
NM_002303.6(LEPR):c.1299T>C (p.Asn433=) rs140137775 0.00001
NM_002303.6(LEPR):c.299C>G (p.Ser100Cys) rs1297438423 0.00001
NM_002303.6(LEPR):c.3041C>G (p.Ser1014Cys) rs563763692 0.00001
NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu) rs779463781 0.00001
NM_002303.6(LEPR):c.371-9T>A rs1253993053 0.00001
NM_002303.6(LEPR):c.666C>G (p.Phe222Leu) rs886046503 0.00001
NM_002303.6(LEPR):c.921G>C (p.Gln307His) rs531183918 0.00001
NM_001003679.2(LEPR):c.-186C>T rs1646225829
NM_002303.6(LEPR):c.*112T>C rs886046506
NM_002303.6(LEPR):c.*188A>C rs886046507
NM_002303.6(LEPR):c.*201C>T rs577287309
NM_002303.6(LEPR):c.*346CA[8] rs10552268
NM_002303.6(LEPR):c.*48G>C rs987448071
NM_002303.6(LEPR):c.*60_*61insCTTTA rs75054066
NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr)
NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly) rs1364613256
NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter) rs757358893
NM_002303.6(LEPR):c.1341C>T (p.Cys447=) rs1656463888
NM_002303.6(LEPR):c.1413T>A (p.Leu471=) rs1656724477
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002303.6(LEPR):c.2397T>G (p.Asp799Glu) rs746887338
NM_002303.6(LEPR):c.2597+1G>A rs1474810899
NM_002303.6(LEPR):c.260T>C (p.Phe87Ser) rs891183270
NM_002303.6(LEPR):c.2970C>G (p.Ile990Met) rs751719702
NM_002303.6(LEPR):c.3114A>G (p.Ile1038Met) rs886046505
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe)
NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs) rs1553174844
NM_002303.6(LEPR):c.346A>C (p.Asn116His)
NM_002303.6(LEPR):c.421A>G (p.Ile141Val)
NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser) rs1557670950
NM_002303.6(LEPR):c.495-2927T>G
NM_002303.6(LEPR):c.716C>T (p.Pro239Leu) rs886046504
NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys) rs996361966
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys)
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.