List of variants in gene CEP290, RLIG1 studied for Joubert syndrome 5

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	rs200178519	0.00019
NM_025114.4(CEP290):c.*168A>G	rs376016171	0.00014
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	rs765709669	0.00003
NM_025114.4(CEP290):c.*151T>C	rs2033206514	0.00001
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)	rs754398792	0.00001
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.7341dup (p.Leu2448fs)	rs281865189
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)	rs569673313

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