ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_000033.4(ABCD1):c.10dup (p.Leu4fs) rs2091702447
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn) rs2091753125
NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys) rs2148388971
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro) rs1351295710
NM_000500.9:c.(?_-50)_(939+1_940-1)del
NM_003002.4(SDHD):c.217dup (p.Ser73fs) rs2135269358
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs) rs1862009020
NM_017849.4(TMEM127):c.208del (p.Asp70fs)

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.