ClinVar Miner

List of variants reported as likely benign for overnutrition by Illumina Laboratory Services, Illumina

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000230.3(LEP):c.-39G>A rs2167270 0.37538
NM_000439.5(PCSK1):c.*1041T>A rs17085675 0.31161
NM_000439.5(PCSK1):c.*1530T>C rs2882298 0.30559
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_000230.3(LEP):c.*2205G>A rs41457646 0.10795
NM_000230.3(LEP):c.*400G>T rs17151922 0.09344
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08816
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) rs6231 0.04494
NM_000230.3(LEP):c.*1243A>G rs6966536 0.02955
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
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_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_005068.3(SIM1):c.*937C>A rs41318037 0.00670
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_138711.6(PPARG):c.1281A>G (p.Ser427=) rs41516544 0.00627
NM_017526.5(LEPROT):c.21C>T (p.Leu7=) rs13306523 0.00623
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605 0.00562
NM_000939.4(POMC):c.641A>G (p.Glu214Gly) rs80326661 0.00552
NM_000939.4(POMC):c.261C>A (p.Phe87Leu) rs199636726 0.00346
NM_005068.3(SIM1):c.2100C>G (p.Gly700=) rs77655804 0.00331
NM_000939.4(POMC):c.346C>T (p.Leu116=) rs34650613 0.00259
NM_138711.6(PPARG):c.1362C>T (p.Ile454=) rs149367249 0.00250
NM_000939.4(POMC):c.158A>G (p.Asp53Gly) rs28932470 0.00173
NM_005068.3(SIM1):c.2292C>T (p.Asn764=) rs143803280 0.00162
NM_138711.6(PPARG):c.150C>T (p.Asp50=) rs112174008 0.00154
NM_000939.4(POMC):c.662A>G (p.Tyr221Cys) rs149540566 0.00096
NM_005068.3(SIM1):c.1082C>T (p.Thr361Ile) rs145479047 0.00089
NM_005912.3(MC4R):c.468G>A (p.Gln156=) rs144393256 0.00060
NM_005068.3(SIM1):c.*183A>T rs145341368 0.00034
NM_005068.3(SIM1):c.1236C>A (p.Thr412=) rs200106103 0.00016
NM_138711.6(PPARG):c.-8-28133C>T rs200479885 0.00001
NM_000230.3(LEP):c.*2595C>A rs28959475
NM_000230.3(LEP):c.*2820_*2822dup rs56247456
NM_000439.5(PCSK1):c.*737_*739dup rs5869716
NM_000439.5(PCSK1):c.*826del rs34572181
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_002303.6(LEPR):c.*60_*61insCTTTA rs75054066
NM_005068.3(SIM1):c.*1132A>C rs74728933

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