ClinVar Miner

List of variants reported as uncertain significance for Monogenic Non-Syndromic Obesity by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000230.3(LEP):c.*366A>T rs28954118 0.03579
NM_000439.5(PCSK1):c.*1333A>T rs6556922 0.02116
NM_000230.3(LEP):c.*34G>A rs28954114 0.01449
NM_000439.5(PCSK1):c.*1842G>A rs10515236 0.01069
NM_000230.3(LEP):c.*2224G>A rs28959472 0.00721
NM_000439.5(PCSK1):c.*597T>C rs115434587 0.00689
NM_000230.3(LEP):c.*2799C>T rs200887574 0.00666
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) rs6236 0.00661
NM_017526.5(LEPROT):c.21C>T (p.Leu7=) rs13306523 0.00623
NM_000230.3(LEP):c.*2015C>A rs28959471 0.00615
NM_000230.3(LEP):c.*150G>A rs28954115 0.00537
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_000230.3(LEP):c.*1010C>A rs138289049 0.00481
NM_002303.6(LEPR):c.-20-15A>T rs116571599 0.00451
NM_017526.5(LEPROT):c.-49C>T rs372078226 0.00451
NM_000230.3(LEP):c.*204C>T rs113405088 0.00283
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_000230.3(LEP):c.*2053G>A rs17617757 0.00215
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_002303.6(LEPR):c.*403T>C rs375886561 0.00185
NM_000230.3(LEP):c.*300C>T rs191600447 0.00143
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_000230.3(LEP):c.*1014C>G rs151325384 0.00120
NM_000230.3(LEP):c.*360G>A rs200748706 0.00094
NM_000230.3(LEP):c.*2738G>A rs201644572 0.00093
NM_000230.3(LEP):c.*1260A>G rs144195028 0.00087
NM_000230.3(LEP):c.*1640C>T rs201065449 0.00086
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=) rs142097318 0.00068
NM_000439.5(PCSK1):c.*262del rs886060885 0.00065
NM_000230.3(LEP):c.*1428C>A rs76601079 0.00057
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=) rs34130975 0.00054
NM_000230.3(LEP):c.*1678C>T rs188857005 0.00048
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_000439.5(PCSK1):c.-21G>A rs188670849 0.00041
NM_000439.5(PCSK1):c.1096-10C>T rs373951075 0.00039
NM_000439.5(PCSK1):c.*1733G>A rs189919167 0.00038
NM_000939.4(POMC):c.*28del rs756770132 0.00038
NM_000439.5(PCSK1):c.-140C>T rs142567487 0.00029
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) rs142647085 0.00029
NM_000439.5(PCSK1):c.*1231C>T rs886060881 0.00021
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_000439.5(PCSK1):c.*1443C>T rs182581645 0.00013
NM_000439.5(PCSK1):c.*287A>G rs373041583 0.00012
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305 0.00011
NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp) rs200969251 0.00011
NM_000439.5(PCSK1):c.709+11G>A rs199951150 0.00010
NM_000439.5(PCSK1):c.*471C>G rs886060884 0.00009
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) rs538803955 0.00006
NM_002303.6(LEPR):c.1166G>A (p.Ser389Asn) rs780534740 0.00006
NM_000439.5(PCSK1):c.*2019A>G rs558370034 0.00004
NM_000439.5(PCSK1):c.*2288A>G rs886060874 0.00004
NM_017526.5(LEPROT):c.-8C>T rs189950527 0.00004
NM_000230.3(LEP):c.*1549T>C rs201701012 0.00003
NM_000230.3(LEP):c.212C>A (p.Thr71Asn) rs886061973 0.00003
NM_000439.5(PCSK1):c.*1401C>T rs886060880 0.00003
NM_000439.5(PCSK1):c.*1571A>G rs886060878 0.00003
NM_000439.5(PCSK1):c.*88G>C rs886060886 0.00003
NM_000439.5(PCSK1):c.*905T>C rs886060883 0.00003
NM_000439.5(PCSK1):c.1196+10A>G rs755372795 0.00003
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) rs199524465 0.00003
NM_000439.5(PCSK1):c.284G>A (p.Arg95His) rs769203665 0.00003
NM_002303.6(LEPR):c.536G>A (p.Gly179Asp) rs151190195 0.00002
NM_000230.3(LEP):c.*69A>G rs886061974 0.00001
NM_000230.3(LEP):c.*992G>T rs886061976 0.00001
NM_000230.3(LEP):c.144+15C>T rs776318015 0.00001
NM_000439.5(PCSK1):c.*1912G>A rs886060876 0.00001
NM_000439.5(PCSK1):c.*837G>A rs772439505 0.00001
NM_002303.6(LEPR):c.2103C>T (p.Phe701=) rs755504289 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_000230.3(LEP):c.*2234G>A rs886061977
NM_000230.3(LEP):c.*2267A>C rs886061978
NM_000230.3(LEP):c.*2527G>T rs886061979
NM_000230.3(LEP):c.*2579G>A rs200738664
NM_000230.3(LEP):c.*2595C>T rs28959475
NM_000230.3(LEP):c.*2819_*2822dup rs56247456
NM_000230.3(LEP):c.*2822dup rs56247456
NM_000230.3(LEP):c.*422G>C rs886061975
NM_000230.3(LEP):c.*785A>G rs114834517
NM_000230.3(LEP):c.181G>A (p.Asp61Asn) rs886061972
NM_000439.5(PCSK1):c.*1097C>A rs867846512
NM_000439.5(PCSK1):c.*1164T>C rs886060882
NM_000439.5(PCSK1):c.*1232G>A rs373852338
NM_000439.5(PCSK1):c.*1414A>C rs886060879
NM_000439.5(PCSK1):c.*1854T>A rs886060877
NM_000439.5(PCSK1):c.*2166C>T rs886060875
NM_000439.5(PCSK1):c.-137A>G rs886060889
NM_000439.5(PCSK1):c.-147C>G rs886060890
NM_000439.5(PCSK1):c.-96C>T rs35753085
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) rs886060888
NM_000439.5(PCSK1):c.2253G>A (p.Glu751=) rs886060887
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.2397T>G (p.Asp799Glu) rs746887338
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

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