List of variants in gene combination CEP290, RLIG1 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)	rs767231715	0.00002
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)	rs775189201	0.00002
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	rs1374014119	0.00001
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)	rs763762899
NM_025114.4(CEP290):c.7233del (p.Glu2412fs)	rs2033254449
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)	rs2033254449
NM_025114.4(CEP290):c.7248del (p.Phe2416fs)
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)	rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)	rs773642187
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs)	rs1482471100
NM_025114.4(CEP290):c.7311del (p.Asn2438fs)
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)
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

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