List of variants studied for adrenal gland disorder by Centogene AG - the Rare Disease Company

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	rs7755898	0.00339
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)	rs202195978	0.00088
NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)	rs1051917954	0.00001
NM_016953.4(PDE11A):c.1774G>A (p.Val592Ile)	rs1307070302	0.00001
NM_016953.4(PDE11A):c.2290C>T (p.Leu764Phe)	rs1323431801	0.00001
NM_016953.4(PDE11A):c.2336T>C (p.Leu779Pro)	rs756779426	0.00001
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr)	rs577258290	0.00001
NM_000176.3(NR3C1):c.2282T>C (p.Ile761Thr)	rs2151472803
NM_000176.3(NR3C1):c.66_68delinsAAA (p.Arg23Lys)	rs2151942107
NM_001128840.3(CACNA1D):c.4863A>T (p.Lys1621Asn)	rs2109109769
NM_001128840.3(CACNA1D):c.5587C>T (p.Gln1863Ter)	rs528674015
NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs)	rs1574084195

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.