List of variants in gene CNGB1 studied for Retinitis Pigmentosa, Recessive

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001297.4(CNGB1):c.*1827T>A	rs6499920	0.26556
NM_001297.4(CNGB1):c.*1826T>A	rs7202369	0.25527
NM_001297.4(CNGB1):c.*1828A>T	rs2405132	0.04938
NM_001297.5(CNGB1):c.1643+13del	rs3217335	0.00748
NM_001297.4(CNGB1):c.*1825T>A	rs142906711	0.00238
NM_001297.5(CNGB1):c.2990G>A (p.Arg997His)	rs199552115	0.00019
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=)	rs769840807	0.00002
NM_001297.4(CNGB1):c.*1837delA	rs71268448
NM_001297.5(CNGB1):c.*1351del	rs886052186
NM_001297.5(CNGB1):c.1363_1364dup	rs71155213
NM_001297.5(CNGB1):c.*1364del	rs71155213
NM_001297.5(CNGB1):c.738_747del	rs565641035
NM_001297.5(CNGB1):c.*887CAAA[1]	rs144307949
NM_001297.5(CNGB1):c.*900AAAG[1]	rs866017919
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup)	rs141566950
NM_001297.5(CNGB1):c.1958-8C>T	rs886052192

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