ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NC_000001.10:g.(?_197237324)_(197237622_?)del
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter) rs1558127317
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) rs776591659
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer)
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter) rs137853136
NM_201253.3(CRB1):c.4005+1G>A
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941
NM_201253.3(CRB1):c.410del (p.Pro137fs) rs1558057153
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)
NM_201253.3(CRB1):c.437_440AGAT[1] (p.Asp148fs)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.70+1G>A rs1237424465
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) rs587783015

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