List of variants in gene AHI1 reported as pathogenic for not provided

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: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	rs777668842	0.00012
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)	rs777215595	0.00005
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	rs121434351	0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)	rs372659908	0.00003
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)	rs1445681647	0.00002
NM_001134831.2(AHI1):c.1235dup (p.Leu413fs)	rs772289223	0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)	rs267606641	0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	rs587783013	0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)	rs863225135	0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)	rs201391050	0.00001
GRCh37/hg19 6q23.3(chr6:135710693-135735779)x1
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
GRCh37/hg19 6q23.3(chr6:135721284-135730984)x1
NM_001134831.2(AHI1):c.1070C>G (p.Ser357Ter)	rs1562219266
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)	rs797045223
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)	rs863225136
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)	rs863225144
NM_001134831.2(AHI1):c.2492+1G>A	rs187245292
NM_001134831.2(AHI1):c.2493-2A>G	rs886039465
NM_001134831.2(AHI1):c.2609G>A (p.Trp870Ter)	rs1057524843
NM_001134831.2(AHI1):c.2988del (p.Val997fs)	rs755246809
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)	rs753874898
NM_001134831.2(AHI1):c.96dup (p.Leu33fs)	rs747322175

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.