ClinVar Miner

List of variants in gene GNB1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002074.5(GNB1):c.495G>A (p.Thr165=) rs143709588 0.00124
NM_002074.5(GNB1):c.738C>T (p.Asp246=) rs79516120 0.00112
NM_002074.5(GNB1):c.916+5G>A rs185462709 0.00056
NM_002074.5(GNB1):c.861T>C (p.Ala287=) rs151315046 0.00012
NM_002074.5(GNB1):c.705T>C (p.Phe235=) rs753314529 0.00009
NM_002074.5(GNB1):c.867C>T (p.Tyr289=) rs771603036 0.00004
NM_002074.5(GNB1):c.942C>T (p.Arg314=) rs147191951 0.00004
NM_002074.5(GNB1):c.342C>T (p.Cys114=) rs556077872 0.00003
NM_002074.5(GNB1):c.543C>T (p.Thr181=) rs768039402 0.00002
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002074.5(GNB1):c.471C>A (p.Ile157=) rs747239027 0.00001
NM_002074.5(GNB1):c.114C>G (p.Asp38Glu)
NM_002074.5(GNB1):c.12T>G (p.Leu4=) rs1570674902
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.286C>T (p.Arg96Cys) rs2100699787
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr) rs1570640673
NM_002074.5(GNB1):c.445T>A (p.Cys149Ser)
NM_002074.5(GNB1):c.458A>G (p.Asp153Gly)
NM_002074.5(GNB1):c.489C>T (p.Asp163=) rs1373042068
NM_002074.5(GNB1):c.519C>T (p.Thr173=) rs374082962
NM_002074.5(GNB1):c.582T>C (p.Pro194=) rs1304248028

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