ClinVar Miner

List of variants reported as likely pathogenic for Cerebral visual impairment and intellectual disability

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Total variants: 15
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HGVS dbSNP
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001100915.3(KCTD19):c.215C>A (p.Thr72Asn) rs869312866
NM_001198956.1(DCAF6):c.2240G>A (p.Arg747Gln) rs145189179
NM_001320668.2(ZFP30):c.730T>C (p.Cys244Arg) rs869312869
NM_001365.4(DLG4):c.277dup (p.Tyr93fs) rs869312859
NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp) rs869312870
NM_004170.6(SLC1A1):c.1264G>A (p.Val422Met) rs755579388
NM_016361.5(ACP6):c.379G>A (p.Val127Met) rs144959805
NM_018125.4(ARHGEF10L):c.3646G>A (p.Asp1216Asn) rs149908903
NM_018359.4(UFSP2):c.1373A>G (p.Tyr458Cys) rs544351411
NM_021911.2(GABRB2):c.754C>G (p.Pro252Ala) rs869312861
NM_133265.3(AMOT):c.699G>C (p.Gln233His) rs869312862
NM_152707.4(SLC25A16):c.793C>T (p.Arg265Cys) rs869312864
NM_152989.5(SOX5):c.1792C>G (p.Arg598Gly) rs869312867
NM_175866.5(UHMK1):c.1214C>T (p.Pro405Leu) rs869312863

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