List of variants in gene ASL reported as likely pathogenic by Counsyl

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: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	rs202142867	0.00022
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)	rs767543051	0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	rs28940286	0.00007
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	rs373697663	0.00004
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)	rs752783461	0.00002
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)	rs752100894	0.00001
NM_000048.4(ASL):c.292G>T (p.Glu98Ter)	rs770375565	0.00001
NM_000048.4(ASL):c.446+2T>C	rs1268519003	0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	rs751590073	0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)	rs756363516	0.00001
NM_000048.4(ASL):c.602+1G>A	rs398123127	0.00001
NM_000048.4(ASL):c.1062+1G>T	rs1554327825
NM_000048.4(ASL):c.1105del (p.Leu369fs)	rs1554328206
NM_000048.4(ASL):c.111_133del (p.Asp38fs)	rs1554326267
NM_000048.4(ASL):c.1207del (p.Val403fs)	rs1554328363
NM_000048.4(ASL):c.1249_1250+12del	rs1554328381
NM_000048.4(ASL):c.13-1G>C	rs1554326239
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)	rs932494060
NM_000048.4(ASL):c.1325del (p.Gly442fs)	rs1554328479
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs)	rs1554326365
NM_000048.4(ASL):c.291+1G>T	rs201523601
NM_000048.4(ASL):c.631_647del (p.Val211fs)	rs1554327181
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	rs1554327573
NM_000048.4(ASL):c.973_976del (p.Leu325fs)	rs763407938

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.