List of variants reported as pathogenic for Leber congenital amaurosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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

Total variants: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	rs62637014	0.00038
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	rs61752877	0.00013
NM_003322.6(TULP1):c.1496-6C>A	rs281865171	0.00011
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	0.00010
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)	rs80044281	0.00006
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	rs527800020	0.00005
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00004
NM_020366.4(RPGRIP1):c.1468-2A>G	rs751342895	0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	rs121917745	0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	rs61752905	0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	rs761231974	0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	rs28940314	0.00003
NM_152443.3(RDH12):c.698T>A (p.Val233Asp)	rs144148976	0.00003
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter)	rs200125117	0.00002
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg)	rs1375943362	0.00001
NM_000329.3(RPE65):c.95-2A>T	rs61751279	0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)	rs75895925	0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)	rs368489658	0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	rs202126574	0.00001
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	rs281865520
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)	rs386834252
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	rs201070350
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)	rs777346333
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.68+1G>A	rs2140138146
NM_152443.3(RDH12):c.784del (p.Ala262fs)	rs1594867551

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.