ClinVar Miner

List of variants in gene MAX reported as pathogenic for adrenal gland disorder

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650 0.00001
NC_000014.9:g.(?_65093698)_(65102349_?)del
NM_002382.5(MAX):c.183_195del (p.Gln62fs)
NM_002382.5(MAX):c.205_206del (p.Glu69fs) rs2139755167
NM_002382.5(MAX):c.211_221del (p.Ile71fs) rs1060500101
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) rs1193255946
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550
NM_002382.5(MAX):c.234_235dup (p.His79fs)
NM_002382.5(MAX):c.242_243dup (p.Gln82fs) rs2063104408
NM_002382.5(MAX):c.295+1G>A rs786203385
NM_002382.5(MAX):c.295+1G>T rs786203385
NM_002382.5(MAX):c.295+2_295+3del rs2063102803
NM_002382.5(MAX):c.37_38del (p.Glu13fs)
NM_002382.5(MAX):c.55C>T (p.Gln19Ter) rs2139963878

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.