ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_001257965.2(CRB1):c.-212-34231C>T rs544047392
NM_201253.2(CRB1):c.4005+7_4005+9dupAGC rs550852869
NM_201253.3(CRB1):c.*393T>C rs147966959
NM_201253.3(CRB1):c.1172-12A>G rs146175509
NM_201253.3(CRB1):c.1428C>T (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.3(CRB1):c.2677-8C>T rs73071678
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312
NM_201253.3(CRB1):c.2843-13C>T rs199808176
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) rs116246250
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) rs142090517
NM_201253.3(CRB1):c.3750-3T>C rs187937543
NM_201253.3(CRB1):c.3878+15A>T rs200217112
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602

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