List of variants in gene CNGB1 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001297.5(CNGB1):c.1122-15C>T	rs2303778	0.46316
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met)	rs147593839	0.00806
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)	rs148999583	0.00372
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)	rs148735841	0.00308
NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=)	rs200934249	0.00180
NM_001297.5(CNGB1):c.2526C>T (p.Thr842=)	rs185729258	0.00076
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys)	rs201186180	0.00066
NM_001297.5(CNGB1):c.2370-9C>T	rs374373659	0.00055
NM_001297.5(CNGB1):c.412+8C>A	rs185727761	0.00030
NM_001297.5(CNGB1):c.838-4G>T	rs375539469	0.00022
NM_001297.5(CNGB1):c.1179C>T (p.Asp393=)	rs377042647	0.00014
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln)	rs543712958	0.00004
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=)	rs376016716
NM_001297.5(CNGB1):c.2634+8G>A	rs369567117

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