List of variants in gene GUCY2D reported as pathogenic for not provided

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	rs61750172	0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)	rs1555635778	0.00001
NM_000180.4(GUCY2D):c.3025A>C (p.Met1009Leu)	rs61750188	0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	rs61749679
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)	rs794727952
NM_000180.4(GUCY2D):c.2335G>T (p.Glu779Ter)	rs541299023
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	rs61750173
NM_000180.4(GUCY2D):c.2944+1del	rs61750185
NM_000180.4(GUCY2D):c.3139-1G>C	rs12602083
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter)	rs768390959
NM_000180.4(GUCY2D):c.826del (p.Leu276fs)	rs2151799674
NM_000180.4(GUCY2D):c.914del (p.His305fs)	rs1598144694

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.