ClinVar Miner

List of variants in gene CRB1 studied for Leber congenital amaurosis

Included ClinVar conditions (38):
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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_001257965.1(CRB1):c.2182T>C (p.Ser728Pro) rs1355198242
NM_201253.2(CRB1):c.*116A>G rs575882211
NM_201253.2(CRB1):c.*158G>T rs886045789
NM_201253.2(CRB1):c.*28T>C rs41302107
NM_201253.2(CRB1):c.*331_*337dupTAGTTTT rs886045790
NM_201253.2(CRB1):c.*393T>C rs147966959
NM_201253.2(CRB1):c.*412T>C rs564341986
NM_201253.2(CRB1):c.-195G>A rs886045782
NM_201253.2(CRB1):c.-204C>T rs544047392
NM_201253.2(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_201253.2(CRB1):c.1172-12A>G rs146175509
NM_201253.2(CRB1):c.1172-15T>A rs375141011
NM_201253.2(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.2(CRB1):c.1410G>A (p.Leu470=) rs3902057
NM_201253.2(CRB1):c.1428C>T (p.Thr476=) rs62636282
NM_201253.2(CRB1):c.1507A>G (p.Thr503Ala) rs375590765
NM_201253.2(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.2(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.2(CRB1):c.1647T>C (p.Asn549=) rs62636283
NM_201253.2(CRB1):c.1752C>T (p.Asp584=) rs750442312
NM_201253.2(CRB1):c.2010T>C (p.Cys670=) rs201949837
NM_201253.2(CRB1):c.2072G>A (p.Trp691Ter)
NM_201253.2(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.2(CRB1):c.2128+15A>C rs75691013
NM_201253.2(CRB1):c.2220dup (p.Met741Hisfs) rs1553261468
NM_201253.2(CRB1):c.2225T>C (p.Phe742Ser) rs140494140
NM_201253.2(CRB1):c.2230C>A (p.Arg744=) rs150412614
NM_201253.2(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.2(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.2(CRB1):c.2330C>T (p.Pro777Leu) rs886045784
NM_201253.2(CRB1):c.2380C>A (p.His794Asn) rs1294237377
NM_201253.2(CRB1):c.2401A>T (p.Lys801Ter) rs137853137
NM_201253.2(CRB1):c.2405C>T (p.Pro802Leu)
NM_201253.2(CRB1):c.2419C>T (p.Leu807=) rs371089348
NM_201253.2(CRB1):c.2548G>A (p.Gly850Ser)
NM_201253.2(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.2(CRB1):c.2677-8C>T rs73071678
NM_201253.2(CRB1):c.2681A>G (p.Asn894Ser) rs62636290
NM_201253.2(CRB1):c.2688T>A (p.Cys896Ter) rs62636273
NM_201253.2(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.2(CRB1):c.2715G>A (p.Arg905=) rs534108312
NM_201253.2(CRB1):c.2798G>A (p.Cys933Tyr)
NM_201253.2(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.2(CRB1):c.2843-13C>T rs199808176
NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.2(CRB1):c.2863A>C (p.Asn955His) rs886045785
NM_201253.2(CRB1):c.2917C>G (p.Leu973Val) rs886045786
NM_201253.2(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787
NM_201253.2(CRB1):c.3228T>C (p.Asp1076=) rs780576185
NM_201253.2(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.2(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.2(CRB1):c.3397G>A (p.Val1133Met) rs116246250
NM_201253.2(CRB1):c.3695A>G (p.His1232Arg) rs142090517
NM_201253.2(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.2(CRB1):c.3750-3T>C rs187937543
NM_201253.2(CRB1):c.3878+15A>T rs200217112
NM_201253.2(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.2(CRB1):c.3997G>T (p.Glu1333Ter) rs137853136
NM_201253.2(CRB1):c.4005+7_4005+9dupAGC rs550852869
NM_201253.2(CRB1):c.4039del (p.Thr1347Leufs)
NM_201253.2(CRB1):c.410del (p.Pro137Leufs)
NM_201253.2(CRB1):c.4118_4127del (p.Ala1374Glufs) rs281865175
NM_201253.2(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.2(CRB1):c.600A>G (p.Thr200=) rs77713666
NM_201253.2(CRB1):c.613_619delATAGGAA (p.Ile205Aspfs) rs62645752
NM_201253.2(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.2(CRB1):c.664G>A (p.Glu222Lys) rs114846212
NM_201253.2(CRB1):c.70+1G>A
NM_201253.2(CRB1):c.71-12A>T rs12042179
NM_201253.2(CRB1):c.866C>T (p.Thr289Met) rs62636263
NM_201253.2(CRB1):c.998G>A (p.Gly333Asp) rs587783015
NM_201253.2(CRB1):c.99G>T (p.Arg33Ser) rs59691602
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)

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