List of variants in gene ALMS1 reported by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)	rs6546839	0.38002
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)	rs758195453	0.00003
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)	rs1275113273	0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)	rs1674967197	0.00001
NM_001378454.1(ALMS1):c.11668+1G>T	rs1181992959
NM_001378454.1(ALMS1):c.1433-64dup	rs66492706
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)	rs34628045
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)	rs756389027
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)	rs2103794046
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)	rs1434010689
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs)	rs1572970628

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.