List of variants reported as pathogenic for adrenal gland disorder by Mendelics

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

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	rs6445	0.00530
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)	rs771254375	0.00011
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	rs72552758	0.00004
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)	rs1557052306	0.00001
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser)	rs1421641874	0.00001
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)	rs755186597	0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)	rs773601814	0.00001
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)	rs727503786
NM_000033.4(ABCD1):c.1430del (p.Glu477fs)	rs2148396057
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.1853del (p.Met618fs)	rs1603235941
NM_000033.4(ABCD1):c.1866-10G>A	rs398123108
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)	rs1170974058
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)	rs1603231848
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)	rs1557052390
NM_000383.4(AIRE):c.117del (p.Glu40fs)	rs1248788128
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	rs121434256
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	rs202242769
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.923del (p.Leu308fs)	rs267606756
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs)	rs1592658517
NM_001370259.2(MEN1):c.654+1G>T	rs794728622
NM_001370259.2(MEN1):c.784-9G>A	rs794728625
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)	rs2121081165
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)	rs1450008394
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)	rs769235876
NM_017849.4(TMEM127):c.410-2A>C	rs121908826

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.