List of variants in gene ALMS1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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

Total variants: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)	rs144486524	0.00310
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)	rs45630557	0.00285
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)	rs188807564	0.00267
NM_001378454.1(ALMS1):c.2730C>T (p.His910=)	rs189923349	0.00245
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)	rs148040591	0.00225
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)	rs201074268	0.00204
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)	rs73945001	0.00195
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=)	rs80009262	0.00162
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)	rs147831309	0.00121
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)	rs183390773	0.00119
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)	rs78102263	0.00071
NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=)	rs369314182	0.00021
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=)	rs376244626	0.00019
NM_001378454.1(ALMS1):c.279C>T (p.Pro93=)	rs770203539	0.00006
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)	rs546111188	0.00001
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)	rs34628045
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)	rs55889738
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)	rs2103783750
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)	rs1269563462
NM_001378454.1(ALMS1):c.77_85del (p.Glu26_Glu28del)	rs797045229

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.