List of variants in gene POC1B reported as likely pathogenic for Cone-rod dystrophy 20

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_172240.3(POC1B):c.424C>T (p.Arg142Ter)	rs756143769	0.00004
NM_172240.3(POC1B):c.101-3T>G	rs750116711	0.00002
NM_172240.3(POC1B):c.676+1G>A	rs909373397	0.00001
NM_172240.3(POC1B):c.1032+1G>A
NM_172240.3(POC1B):c.1054del (p.Ile352fs)
NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs)	rs1880707874
NM_172240.3(POC1B):c.453-7_453-2del	rs1882929478
NM_172240.3(POC1B):c.750dup (p.Thr251fs)

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