ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis by Illumina Clinical Services Laboratory,Illumina

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Total variants: 15
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HGVS dbSNP
NM_000554.6(CRX):c.*1654dup rs138321430
NM_002242.4(KCNJ13):c.-72_-71delCT rs5839447
NM_003322.6(TULP1):c.*273del rs112061946
NM_004744.5(LRAT):c.*1338T>G rs12507608
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_004744.5(LRAT):c.*2670G>T rs17032000
NM_004744.5(LRAT):c.*3618G>A rs17032002
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981
NM_014336.4(AIPL1):c.-106C>A rs7211442
NM_014336.4(AIPL1):c.-107C>G rs149098937
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_183059.2(RD3):c.*1307_*1308insCT rs142577368
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NR_148338.1(LOC107986845):n.884G>A rs183121204

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