ClinVar Miner

List of variants studied for CEP290-related ciliopathy by Breakthrough Genomics, Breakthrough Genomics

Included ClinVar conditions (17):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	rs539400286	0.00002
NM_025114.4(CEP290):c.1666del (p.Ile556fs)	rs727503855
NM_025114.4(CEP290):c.2274dup (p.Val759fs)
NM_025114.4(CEP290):c.5364+1G>A

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