List of variants in gene CNGB3 reported by Sharon lab, Hadassah-Hebrew University Medical Center

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_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	rs147876778	0.00119
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)	rs373862340	0.00007
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)	rs139207764	0.00005
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter)	rs770786127	0.00001
NM_019098.5(CNGB3):c.644-1G>C	rs201794629	0.00001
NM_019098.5(CNGB3):c.782A>G (p.Asp261Gly)	rs1233466909	0.00001
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)	rs1586047969
NM_019098.5(CNGB3):c.2328del (p.Arg777fs)	rs1585941011
NM_019098.5(CNGB3):c.819del (p.Arg274fs)	rs1586003680

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