ClinVar Miner

List of variants in gene GNB1 reported by GeneDx

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_002074.5(GNB1):c.*9+119G>T rs79370402 0.05195
NM_002074.5(GNB1):c.462C>T (p.Asp154=) rs77027087 0.01689
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002074.5(GNB1):c.1021T>A (p.Ter341Lys)
NM_002074.5(GNB1):c.1022A>C (p.Ter341Ser) rs747120803
NM_002074.5(GNB1):c.109A>G (p.Ile37Val)
NM_002074.5(GNB1):c.113A>G (p.Asp38Gly)
NM_002074.5(GNB1):c.145A>G (p.Arg49Gly)
NM_002074.5(GNB1):c.154C>T (p.Arg52Trp) rs2100858748
NM_002074.5(GNB1):c.163C>G (p.Leu55Val) rs2100858599
NM_002074.5(GNB1):c.178G>A (p.Ala60Thr) rs1646845570
NM_002074.5(GNB1):c.189G>C (p.Trp63Cys)
NM_002074.5(GNB1):c.211G>A (p.Val71Ile)
NM_002074.5(GNB1):c.226G>A (p.Asp76Asn) rs1646697327
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp) rs1135401746
NM_002074.5(GNB1):c.230G>C (p.Gly77Ala) rs1135401746
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.239T>G (p.Ile80Ser) rs752746786
NM_002074.5(GNB1):c.266A>G (p.Lys89Arg) rs1064795844
NM_002074.5(GNB1):c.268-7T>A rs2100700072
NM_002074.5(GNB1):c.293C>T (p.Ser98Phe) rs2522750521
NM_002074.5(GNB1):c.295T>C (p.Trp99Arg)
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser) rs1646670170
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002074.5(GNB1):c.347G>T (p.Gly116Val) rs1646670079
NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr) rs1570640673
NM_002074.5(GNB1):c.364T>C (p.Ser122Pro)
NM_002074.5(GNB1):c.365C>T (p.Ser122Phe)
NM_002074.5(GNB1):c.388G>A (p.Glu130Lys) rs1553194155
NM_002074.5(GNB1):c.392G>A (p.Gly131Glu)
NM_002074.5(GNB1):c.497+168dup rs33952351
NM_002074.5(GNB1):c.497G>C (p.Cys166Ser)
NM_002074.5(GNB1):c.513C>G (p.Ile171Met)
NM_002074.5(GNB1):c.687C>G (p.Ile229Met) rs2100502789
NM_002074.5(GNB1):c.700-1G>T rs1646448461
NM_002074.5(GNB1):c.800ACA[1] (p.Asn268del) rs2100481073
NM_002074.5(GNB1):c.803A>T (p.Asn268Ile) rs757342463
NM_002074.5(GNB1):c.815G>T (p.Gly272Val) rs2522187384
NM_002074.5(GNB1):c.830C>G (p.Ser277Cys) rs1553191757
NM_002074.5(GNB1):c.891G>T (p.Trp297Cys) rs2100479868
NM_002074.5(GNB1):c.896C>T (p.Ala299Val) rs1646445742
NM_002074.5(GNB1):c.917-2A>G rs2100452011
NM_002074.5(GNB1):c.940C>T (p.Arg314Cys)
NM_002074.5(GNB1):c.987_988del (p.Gly330fs) rs1646420115
NM_002074.5(GNB1):c.989G>C (p.Gly330Ala)

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