ClinVar Miner

List of variants in gene CNGB1 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.57882337A>T rs6499920 0.26556
NC_000016.10:g.57882338A>T rs7202369 0.24708
NM_001297.5(CNGB1):c.*595C>G rs79806773 0.06925
NM_001297.5(CNGB1):c.*1228C>G rs1477406 0.05245
NC_000016.10:g.57882336T>A rs2405132 0.04811
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04422
NM_001297.5(CNGB1):c.*675G>A rs72782246 0.04017
NM_001297.5(CNGB1):c.*1671A>G rs117526439 0.03428
NM_001297.5(CNGB1):c.2517T>C (p.Ala839=) rs17821412 0.02990
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372 0.02335
NM_001297.5(CNGB1):c.105G>A (p.Ala35=) rs61997250 0.01885
NM_001297.5(CNGB1):c.*244A>G rs112033454 0.01713
NM_001297.5(CNGB1):c.3378C>T (p.Gly1126=) rs11867123 0.01433
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) rs61745888 0.01420
NM_001297.5(CNGB1):c.606A>G (p.Glu202=) rs76788887 0.01379
NM_001297.5(CNGB1):c.*493C>T rs73562940 0.01280
NM_001297.5(CNGB1):c.1643+13del rs3217335 0.01152
NM_001297.5(CNGB1):c.2481C>T (p.Gly827=) rs77399988 0.01073
NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu) rs73562944 0.00971
NM_001297.5(CNGB1):c.*1462A>G rs78908517 0.00546
NC_000016.10:g.57882339A>T rs142906711 0.00238
NM_001297.5(CNGB1):c.2514T>C (p.Phe838=) rs370767664 0.00178
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00175
NC_000016.10:g.57882336del rs71268448
NM_001297.5(CNGB1):c.*887CAAA[1] rs144307949
NM_001297.5(CNGB1):c.*900AAAG[1] rs866017919
NM_001297.5(CNGB1):c.*918C>A rs78514298
NM_001297.5(CNGB1):c.292C>T (p.Pro98Ser) rs570828500

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