List of variants in gene POMC reported as uncertain significance for overnutrition

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000939.4(POMC):c.18C>T (p.Cys6=)	rs8192605	0.00562
NM_000939.4(POMC):c.261C>A (p.Phe87Leu)	rs199636726	0.00346
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_000939.4(POMC):c.662A>G (p.Tyr221Cys)	rs149540566	0.00096
NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla)	rs762710034	0.00039
NM_000939.4(POMC):c.*28del	rs756770132	0.00038
NM_000939.4(POMC):c.429C>G (p.His143Gln)	rs201519174	0.00019
NM_000939.4(POMC):c.26C>T (p.Ser9Leu)	rs139750421	0.00014
NM_000939.4(POMC):c.*120A>G	rs886055853	0.00010
NM_000939.4(POMC):c.-20-906C>T	rs886055855	0.00010
NM_000939.4(POMC):c.116C>T (p.Thr39Met)	rs200370644	0.00007
NM_000939.4(POMC):c.433C>T (p.Arg145Cys)	rs756412997	0.00004
NM_000939.4(POMC):c.638C>T (p.Ala213Val)	rs757423347	0.00004
NM_000939.4(POMC):c.498C>T (p.Asp166=)	rs760352559	0.00003
NM_000939.4(POMC):c.491C>T (p.Ala164Val)	rs773522618	0.00001
NM_000939.4(POMC):c.4C>T (p.Pro2Ser)	rs752925315	0.00001
NM_000939.4(POMC):c.801G>A (p.Glu267=)	rs779850714	0.00001
NM_000939.4(POMC):c.-20-675A>G
NM_000939.4(POMC):c.-20-904T>C	rs886055854
NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4])	rs10654394
NM_000939.4(POMC):c.283A>G (p.Ser95Gly)	rs550376110
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)	rs8192606
NM_000939.4(POMC):c.434G>A (p.Arg145His)	rs45463492
NM_000939.4(POMC):c.474G>T (p.Lys158Asn)	rs373721473
NM_000939.4(POMC):c.642G>A (p.Glu214=)	rs1671345551
NM_000939.4(POMC):c.73C>T (p.Arg25Cys)
NM_001035256.2(POMC):c.297_298ins90 (p.?)

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.