ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Institute of Vision Research, Yonsei University College of Medicine

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.[1978C>T];[2960G>C]
NM_000554.6(CRX):c.443del (p.Gly148fs) rs1968165374
NM_000554.6(CRX):c.[101-1G>A];[122G>A]
NM_001378615.1(CC2D2A):c.[2803C>T];[934G>A]
NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]
NM_020366.3(RPGRIP1):c.[2302C>T];[3565_3571del]
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.4(RPGRIP1):c.[2079C>G];[2212_2215+21del]
NM_022787.4(NMNAT1):c.[196C>T];[709C>T]
NM_022787.4(NMNAT1):c.[275G>A];[709C>T]
NM_024649.5(BBS1):c.[1285C>T];[908del]
NM_025114.4(CEP290):c.[1429C>T];[322C>T]
NM_025114.4(CEP290):c.[1666del];[6012-12T>A]
NM_025114.4(CEP290):c.[3847C>T];[6271-1G>A]
NM_201253.3(CRB1):c.[1208C>G];[1576C>T]

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