List of variants in gene CEP290 studied for Bardet-Biedl syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG	rs71082425	0.87640
NM_025114.4(CEP290):c.2484-18GTTTT[4]	rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup	rs886049881
NM_025114.4(CEP290):c.3574-9del	rs10717563
NM_025114.4(CEP290):c.442-11del	rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup	rs199511358
NM_025114.4(CEP290):c.442-22dup	rs199511358
NM_025114.4(CEP290):c.5227-14del	rs747878752
NM_025114.4(CEP290):c.6522+5dup	rs11405846
NM_025114.4(CEP290):c.7209+11_7209+14del	rs750259100

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