List of variants in gene CRB1 reported as likely benign for Leber congenital amaurosis

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.600A>G (p.Thr200=)	rs77713666	0.00254
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)	rs151104285	0.00143
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)	rs62636285	0.00078
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	rs62645749	0.00049
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)	rs200379694	0.00035
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)	rs62636263	0.00025
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)	rs114846212	0.00014
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)	rs114052315	0.00011
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)	rs62636284	0.00010
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)	rs114630940	0.00009
NM_201253.3(CRB1):c.1014C>T (p.Ile338=)	rs771549675	0.00006
NM_201253.3(CRB1):c.1746A>G (p.Leu582=)	rs550119977	0.00006
NM_201253.3(CRB1):c.447C>T (p.His149=)	rs576678571	0.00005
NM_201253.3(CRB1):c.1452C>T (p.Thr484=)	rs372844443	0.00002
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)	rs373229699	0.00001
NM_201253.3(CRB1):c.1479C>T (p.Phe493=)	rs770919155	0.00001
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)	rs750442312	0.00001
NM_201253.3(CRB1):c.1977G>A (p.Ser659=)	rs1457627160	0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)	rs774597710	0.00001
NM_201253.3(CRB1):c.207C>T (p.Asn69=)	rs1302750453	0.00001
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)	rs1192399919	0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)	rs62645757	0.00001
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=)	rs374426440	0.00001
NM_201253.3(CRB1):c.763C>T (p.Leu255=)	rs1659649148	0.00001
NM_201253.3(CRB1):c.957T>C (p.Ser319=)	rs765228022	0.00001
NM_201253.3(CRB1):c.1428C>G (p.Thr476=)	rs62636282
NM_201253.3(CRB1):c.2316A>G (p.Leu772=)	rs964544440
NM_201253.3(CRB1):c.4005+4AGC[3]	rs550852869

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