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	gnomAD frequency
NM_016361.5(ACP6):c.379G>A (p.Val127Met)	rs144959805	0.00045
NM_001198956.2(DCAF6):c.2240G>A (p.Arg747Gln)	rs145189179	0.00032
NM_018359.5(UFSP2):c.1373A>G (p.Tyr458Cys)	rs544351411	0.00003
NM_152707.4(SLC25A16):c.793C>T (p.Arg265Cys)	rs869312864	0.00001
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln)	rs869312871
NM_001100915.3(KCTD19):c.215C>A (p.Thr72Asn)	rs869312866
NM_001113490.2(AMOT):c.1926G>C (p.Gln642His)	rs869312862
NM_001320669.3(ZFP30):c.730T>C (p.Cys244Arg)	rs869312869
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs)	rs869312859
NM_001371727.1(GABRB2):c.754C>G (p.Pro252Ala)	rs869312861
NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp)	rs869312870
NM_004170.6(SLC1A1):c.1264G>A (p.Val422Met)	rs755579388
NM_006940.6(SOX5):c.1831C>G (p.Arg611Gly)	rs869312867
NM_018125.4(ARHGEF10L):c.3646G>A (p.Asp1216Asn)	rs149908903
NM_175866.5(UHMK1):c.1214C>T (p.Pro405Leu)	rs869312863

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