ClinVar Miner

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

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_001257965.2(CRB1):c.-212-34222G>A rs886045782
NM_001257965.2(CRB1):c.-212-34231C>T rs544047392
NM_201253.3(CRB1):c.*116A>G rs575882211
NM_201253.3(CRB1):c.*158G>T rs886045789
NM_201253.3(CRB1):c.*171C>G
NM_201253.3(CRB1):c.*261A>G
NM_201253.3(CRB1):c.*289A>G
NM_201253.3(CRB1):c.*324C>A
NM_201253.3(CRB1):c.*331_*337dup rs886045790
NM_201253.3(CRB1):c.*393T>C rs147966959
NM_201253.3(CRB1):c.*412T>C rs564341986
NM_201253.3(CRB1):c.*81C>A
NM_201253.3(CRB1):c.*99G>T
NM_201253.3(CRB1):c.-55C>T
NM_201253.3(CRB1):c.-56C>G
NM_201253.3(CRB1):c.1086A>T (p.Gln362His)
NM_201253.3(CRB1):c.1172-12A>G rs146175509
NM_201253.3(CRB1):c.1172-15T>A rs375141011
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile) rs144011428
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) rs751691851
NM_201253.3(CRB1):c.1305A>T (p.Gly435=)
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
NM_201253.3(CRB1):c.1428C>T (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr)
NM_201253.3(CRB1):c.1496G>T (p.Gly499Val)
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) rs750442312
NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser)
NM_201253.3(CRB1):c.1878T>C (p.Ala626=)
NM_201253.3(CRB1):c.2010T>C (p.Cys670=) rs201949837
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val)
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) rs140494140
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu)
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro)
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784
NM_201253.3(CRB1):c.2380C>A (p.His794Asn) rs1294237377
NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu) rs1558132026
NM_201253.3(CRB1):c.2419C>T (p.Leu807=) rs371089348
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala)
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser)
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu)
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) rs1558133731
NM_201253.3(CRB1):c.2843-13C>T rs199808176
NM_201253.3(CRB1):c.2863A>C (p.Asn955His) rs886045785
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn)
NM_201253.3(CRB1):c.2917C>G (p.Leu973Val) rs886045786
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)
NM_201253.3(CRB1):c.308G>T (p.Ser103Ile)
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185
NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys)
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.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)
NM_201253.3(CRB1):c.3750-3T>C rs187937543
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys)
NM_201253.3(CRB1):c.3878+15A>T rs200217112
NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala)
NM_201253.3(CRB1):c.411T>C (p.Pro137=)
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro)
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) rs1064797126
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.639C>G (p.Pro213=)
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys)
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg)
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu)
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg)
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys)
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602

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