ClinVar Miner

List of variants in gene CNGB1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
NM_001297.5(CNGB1):c.1958-14A>C rs3991715 0.30656
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_001297.5(CNGB1):c.3147C>T (p.His1049=) rs200581517 0.00275
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro) rs200332871 0.00219
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) rs201407276 0.00131
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001297.5(CNGB1):c.2526C>T (p.Thr842=) rs185729258 0.00076
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys) rs199583058 0.00054
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys) rs78149232 0.00018
NM_001297.5(CNGB1):c.458+7C>T rs368819628 0.00016
NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile) rs2303783 0.00014
NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=) rs201319323 0.00004
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln) rs543712958 0.00004
NM_001297.5(CNGB1):c.3693G>A (p.Pro1231=) rs756850659 0.00002
NM_001297.5(CNGB1):c.90G>A (p.Glu30=) rs375219355 0.00002
NM_001297.5(CNGB1):c.2844C>T (p.Leu948=) rs376791249 0.00001
NM_001297.5(CNGB1):c.3033C>T (p.Gly1011=) rs772877765 0.00001
NM_001297.5(CNGB1):c.1011C>T (p.Asn337=)
NM_001297.5(CNGB1):c.2094C>T (p.Cys698=) rs563059002
NM_001297.5(CNGB1):c.2634+8G>A rs369567117
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.270T>G (p.Ala90=)

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