ClinVar Miner

List of variants reported as pathogenic by Molecular Diagnostics Laboratory, Seoul National University Hospital

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 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_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000214.3(JAG1):c.341del (p.Gly114fs)
NM_000214.3(JAG1):c.74dup (p.Ala26fs)
NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) rs1601714299
NM_000292.3(PHKA2):c.718-2A>G rs1601763099
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000294.3(PHKG2):c.783del (p.Ser262fs) rs1372753669
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs) rs587783014
NM_002863.5(PYGL):c.198del (p.Arg67fs)
NM_003742.4(ABCB11):c.2075+3A>G
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)
NM_014251.3(SLC25A13):c.1474C>T (p.Arg492Trp)
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_201253.3(CRB1):c.998G>A (p.Gly333Asp) rs587783015

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