List of variants reported as pathogenic for autosomal recessive disease by NIHR Bioresource Rare Diseases, University of Cambridge

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	rs62637014	0.00038
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	rs121909762	0.00004
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	rs111033201	0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)	rs1199012623	0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	rs387907009	0.00001
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	rs111033347
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	rs61749423
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)	rs750962965
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)	rs766143193
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	rs866395428
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	rs775796581
NM_153676.4(USH1C):c.238dup (p.Arg80fs)	rs397515359
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)	rs762159022
NM_206933.4(USH2A):c.920_923dup (p.His308fs)	rs397518043

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.