List of variants in gene CEP290, RLIG1 studied for autosomal recessive congenital cerebellar ataxia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	rs200178519	0.00021
NM_001009894.3(RLIG1):c.*594T>C	rs376016171	0.00014
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	rs765709669	0.00004
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)	rs754398792	0.00003
NM_001009894.3(RLIG1):c.*611A>G	rs2033206514	0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	rs1374014119	0.00001
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)	rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)	rs1219184437
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)	rs2136546576
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)	rs773642187
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)	rs768777116
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)	rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)	rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)	rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)	rs281865189
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)	rs569673313

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