List of variants in gene GUCY2C reported as uncertain significance for intestinal motility disease

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004963.4(GUCY2C):c.1562A>G (p.Asn521Ser)	rs143367522	0.00048
NM_004963.4(GUCY2C):c.1967A>G (p.Asn656Ser)	rs1435086834	0.00005
NM_004963.4(GUCY2C):c.202C>T (p.Arg68Cys)	rs750915945	0.00003
NM_004963.4(GUCY2C):c.2279A>G (p.Tyr760Cys)	rs371835339	0.00003
NM_004963.4(GUCY2C):c.2758C>T (p.Arg920Cys)	rs149347801	0.00001
NM_004963.4(GUCY2C):c.1345G>C (p.Val449Leu)
NM_004963.4(GUCY2C):c.143C>G (p.Ala48Gly)	rs144941598
NM_004963.4(GUCY2C):c.1798G>A (p.Gly600Arg)	rs777943137
NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys)	rs562942379
NM_004963.4(GUCY2C):c.2356T>C (p.Tyr786His)	rs2136990175
NM_004963.4(GUCY2C):c.367T>A (p.Ser123Thr)
NM_004963.4(GUCY2C):c.629A>G (p.Glu210Gly)

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.