ClinVar Miner

List of variants in gene CNGB1 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
NM_001297.5(CNGB1):c.2218-12C>T rs483053 0.49292
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001297.5(CNGB1):c.1958-14A>C rs3991715 0.30656
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) rs2161703 0.12201
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785 0.08900
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372 0.02335
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.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) rs1052029 0.00308
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val) rs78292723 0.00257
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) rs539304668 0.00075
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.1828G>A (p.Ala610Thr) rs201302946 0.00024
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.2990G>A (p.Arg997His) rs199552115 0.00019
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu) rs148555948 0.00017
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001297.5(CNGB1):c.2656G>A (p.Ala886Thr) rs758922488 0.00006
NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu) rs121918532 0.00006
NM_001297.5(CNGB1):c.2266G>A (p.Gly756Ser) rs398123605 0.00004
NM_001297.5(CNGB1):c.291-5C>T rs372308762 0.00004
NM_001297.5(CNGB1):c.285G>T (p.Met95Ile) rs376053977 0.00002
NM_001297.5(CNGB1):c.3305G>A (p.Arg1102Gln) rs368987059 0.00002
NM_001297.5(CNGB1):c.2128C>T (p.Gln710Ter) rs754786301 0.00001
NM_001297.5(CNGB1):c.3019G>C (p.Val1007Leu) rs765061130 0.00001
NM_001297.5(CNGB1):c.3339C>T (p.Leu1113=) rs748808412 0.00001
NM_001297.5(CNGB1):c.705C>T (p.Pro235=) rs748140894 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001297.5(CNGB1):c.2556dup (p.Lys853fs) rs797044693
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp) rs200694933

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