ClinVar Miner

List of variants studied for Leber congenital amaurosis 1

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Total variants: 72
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HGVS dbSNP
GUCY2D, 1-BP DEL, 2943G
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs) rs763890649
NM_000180.4(GUCY2D):c.1391del (p.Gly464fs) rs1567958644
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2978del (p.Met993fs)
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) rs386834239
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442
NM_000554.6(CRX):c.478_479GT[1] (p.Ser161fs)
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
NM_003322.6(TULP1):c.524dup (p.Pro176fs) rs1327062642
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs) rs1300041533
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910
NM_020366.3(RPGRIP1):c.2012G>A (p.Gly671Glu)
NM_020366.3(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310
NM_020366.3(RPGRIP1):c.2468A>G (p.Tyr823Cys)
NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs)
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.800+1G>A
NM_020366.3(RPGRIP1):c.800G>A (p.Arg267Gln)
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs)
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.287G>A (p.Cys96Tyr)
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del)
NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)

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