ClinVar Miner

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

Included ClinVar conditions (50):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_012418.4(FSCN2):c.72del (p.Thr25fs) rs376633374 0.00024
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025 0.00002
NM_002899.5(RBP1):c.387_400del (p.Lys131fs) rs587783020 0.00002
NM_002335.4(LRP5):c.1697G>A (p.Arg566His) rs587783024 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu) rs535922252
NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter) rs587783019
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) rs587783022
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) rs587783015
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126

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