ClinVar Miner

List of variants studied for Obesity due to leptin receptor gene deficiency by Illumina Laboratory Services, Illumina

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) rs1137101 0.50085
NM_002303.6(LEPR):c.-122T>C rs3790435 0.47981
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.2096C>T (p.Thr699Met) rs34499590 0.01048
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_017526.5(LEPROT):c.21C>T (p.Leu7=) rs13306523 0.00623
NM_002303.6(LEPR):c.-161C>T rs372078226 0.00451
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.3078T>C (p.Asn1026=) rs34130975 0.00054
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_002303.6(LEPR):c.-51T>G rs150026062 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.2171T>C (p.Val724Ala) rs375934938 0.00009
NM_002303.6(LEPR):c.-162C>A rs368145929 0.00007
NM_002303.6(LEPR):c.1166G>A (p.Ser389Asn) rs780534740 0.00006
NM_002303.6(LEPR):c.-120C>T rs189950527 0.00004
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.2185T>G (p.Leu729Val) rs768503592 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.2046C>T (p.Asn682=) rs192825082 0.00001
NM_002303.6(LEPR):c.2103C>T (p.Phe701=) rs755504289 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_002303.5(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.1157A>G (p.Asp386Gly) rs1364613256
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.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.716C>T (p.Pro239Leu) rs886046504
NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys) rs996361966

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