ClinVar Miner

List of variants reported as uncertain significance for overnutrition by New York Genome Center

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021969.3(NR0B2):c.473G>A (p.Ser158Asn) rs151014108 0.00413
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00247
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_000939.4(POMC):c.158A>G (p.Asp53Gly) rs28932470 0.00173
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla) rs762710034 0.00039
NM_000939.4(POMC):c.26C>T (p.Ser9Leu) rs139750421 0.00014
NM_032898.5(CEP19):c.283C>T (p.Arg95Trp) rs201163650 0.00009
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met)
NM_000439.5(PCSK1):c.1430+7A>G
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val)
NM_000939.4(POMC):c.-20-675A>G
NM_000939.4(POMC):c.-21+8C>A
NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4]) rs10654394
NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr)
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe)
NM_002303.6(LEPR):c.346A>C (p.Asn116His)
NM_002303.6(LEPR):c.495-2927T>G
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys)
NM_004714.3(DYRK1B):c.1285G>C (p.Gly429Arg)
NM_004714.3(DYRK1B):c.1627C>T (p.Pro543Ser)
NM_004714.3(DYRK1B):c.1640G>A (p.Arg547Gln)
NM_004714.3(DYRK1B):c.1748C>T (p.Ala583Val)
NM_004714.3(DYRK1B):c.63+7G>A
NM_016362.5(GHRL):c.255del (p.Lys85fs) rs1044457750
NM_021969.3(NR0B2):c.211A>G (p.Arg71Gly)
NM_021969.3(NR0B2):c.497A>G (p.Tyr166Cys)
NM_021969.3(NR0B2):c.528C>A (p.Asn176Lys)
NM_021969.3(NR0B2):c.637C>T (p.Arg213Cys)
NM_021969.3(NR0B2):c.749T>C (p.Leu250Pro)

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.