ClinVar Miner

List of variants in gene CNGB3 studied for Inborn genetic diseases

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp) rs201770811 0.00014
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln) rs377730576 0.00011
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) rs144474033 0.00009
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) rs190864281 0.00008
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly) rs781481819 0.00006
NM_019098.5(CNGB3):c.1484A>C (p.Glu495Ala) rs142387860 0.00004
NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val) rs140932384 0.00004
NM_019098.5(CNGB3):c.1834G>T (p.Gly612Trp) rs201675902 0.00003
NM_019098.5(CNGB3):c.1433G>A (p.Arg478Gln) rs772270787 0.00002
NM_019098.5(CNGB3):c.1198T>C (p.Trp400Arg) rs771941989 0.00001
NM_019098.5(CNGB3):c.260A>G (p.Asp87Gly) rs1165080500 0.00001
NM_019098.5(CNGB3):c.68G>T (p.Ser23Ile) rs1475427899 0.00001
NM_019098.5(CNGB3):c.1030A>G (p.Ile344Val)
NM_019098.5(CNGB3):c.1595T>C (p.Met532Thr)
NM_019098.5(CNGB3):c.1663G>A (p.Gly555Arg)
NM_019098.5(CNGB3):c.1806C>G (p.Asn602Lys) rs769171325
NM_019098.5(CNGB3):c.1844A>G (p.Asn615Ser)
NM_019098.5(CNGB3):c.1889A>C (p.His630Pro) rs868194989
NM_019098.5(CNGB3):c.2138G>A (p.Gly713Glu)
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr) rs1821645749
NM_019098.5(CNGB3):c.339-4415_673del
NM_019098.5(CNGB3):c.425G>A (p.Arg142Lys)
NM_019098.5(CNGB3):c.500C>T (p.Pro167Leu)
NM_019098.5(CNGB3):c.65A>G (p.Gln22Arg)
NM_019098.5(CNGB3):c.701G>C (p.Cys234Ser)
NM_019098.5(CNGB3):c.839G>A (p.Gly280Glu)
NM_019098.5(CNGB3):c.841G>A (p.Gly281Arg)
NM_019098.5(CNGB3):c.848T>A (p.Ile283Lys)

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