List of variants studied for anterior pituitary gland disorder by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	rs104894190	0.00115
NM_000949.7(PRLR):c.806C>T (p.Pro269Leu)	rs754974807	0.00013
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)	rs104894194	0.00002
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)	rs104894195	0.00001
NM_000949.7(PRLR):c.511C>T (p.Arg171Ter)	rs376188691
NM_000949.7(PRLR):c.635A>G (p.His212Arg)	rs398122522
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)	rs137853226
NM_003977.4(AIP):c.469-1G>A	rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs)	rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)	rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)	rs267606567
NM_003977.4(AIP):c.824dup (p.His275fs)	rs267606580
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)	rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)	rs672601306
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)	rs672601311
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)	rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)	rs73637412

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.