ClinVar Miner

List of variants studied for inherited obesity by OMIM

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44199
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_000025.3(ADRB3):c.190T>C (p.Trp64Arg) rs4994 0.09116
NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) rs4684677 0.06619
NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) rs5030980 0.02970
NM_016362.5(GHRL):c.152G>A (p.Arg51Gln) rs34911341 0.00747
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) rs121909065 0.00006
NM_032898.5(CEP19):c.232C>T (p.Arg78Ter) rs587777230 0.00002
NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu) rs137852824 0.00001
NM_000939.4(POMC):c.-11C>A rs753856820 0.00001
NM_000939.4(POMC):c.151A>T (p.Lys51Ter) rs121918112 0.00001
NC_012920.1(MT-CYB):m.15497G>A rs199951903
NM_000230.3(LEP):c.313C>T (p.Arg105Trp) rs104894023
NM_000230.3(LEP):c.398del (p.Gly133fs)
NM_000439.5(PCSK1):c.1095+1G>A
NM_000439.5(PCSK1):c.1095+1G>T
NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer)
NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg) rs137852821
NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter)
NM_000439.5(PCSK1):c.620+4A>C rs1580764441
NM_000439.5(PCSK1):c.638_640del (p.Ala213del) rs137852823
NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter) rs137852822
NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys)
NM_000939.4(POMC):c.313G>T (p.Glu105Ter) rs121918111
NM_000939.4(POMC):c.403_404dup (p.Lys136fs) rs796065035
NM_000939.4(POMC):c.433del (p.Arg145fs) rs796065034
NM_001394028.1(PYY):c.185A>C (p.Gln62Pro) rs267606994
NM_002303.6(LEPR):c.2597+1G>A rs1474810899
NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser) rs1557670950
NM_005912.3(MC4R):c.[105C>A;110A>T]
NM_006208.3(ENPP1):c.2101-11del rs397832689
POMC, 1-BP DEL, NT6996
POMC, 1-BP INS, 6922C

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