ClinVar Miner

List of variants studied for Leber congenital amaurosis by Molecular Diagnostics Laboratory,Seoul National University Hospital

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Total variants: 12
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NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_001077182.3(FSCN2):c.72del (p.Thr25fs) rs376633374
NM_001168407.2(RIMS1):c.1536-963del rs587783021
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025
NM_002335.4(LRP5):c.1697G>A (p.Arg566His) rs587783024
NM_002899.5(RBP1):c.387_400del (p.Lys131fs) rs587783020
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) rs587783022
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.4(USH2A):c.4758+3A>G rs117798425

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