ClinVar Miner

List of variants in gene CTNNB1 studied for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 0.00086
NM_001904.4(CTNNB1):c.2315A>G (p.Asn772Ser) rs138501547 0.00004
NM_001904.4(CTNNB1):c.1078G>A (p.Ala360Thr) rs1233211339
NM_001904.4(CTNNB1):c.1081+1G>A rs2078201673
NM_001904.4(CTNNB1):c.1126C>T (p.Arg376Cys) rs2125637732
NM_001904.4(CTNNB1):c.1135C>T (p.Gln379Ter) rs2125637783
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile) rs1553631770
NM_001904.4(CTNNB1):c.1158del (p.Asn387fs) rs1553631783
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001904.4(CTNNB1):c.1745_1753del (p.Arg582_Val584del) rs1553632262
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.1762A>C (p.Ile588Leu) rs1177261399
NM_001904.4(CTNNB1):c.1782_1783del (p.Thr595fs) rs2470843357
NM_001904.4(CTNNB1):c.1848_1858del (p.Val617fs) rs2470847034
NM_001904.4(CTNNB1):c.1849_1851dup (p.Val617dup) rs1553632352
NM_001904.4(CTNNB1):c.1870dup (p.Asp624fs) rs2078435846
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001904.4(CTNNB1):c.2071_2072delinsG (p.Asn691fs) rs2470850103
NM_001904.4(CTNNB1):c.2077-2A>G rs747601516
NM_001904.4(CTNNB1):c.2086C>G (p.Leu696Val) rs2470857139
NM_001904.4(CTNNB1):c.2137+1G>A rs2078482400
NM_001904.4(CTNNB1):c.2159A>C (p.His720Pro)
NM_001904.4(CTNNB1):c.788T>G (p.Leu263Ter) rs2078159952
NM_001904.4(CTNNB1):c.796C>T (p.Gln266Ter) rs1553630472
NM_001904.4(CTNNB1):c.804del (p.Ala269fs) rs2078160204
NM_001904.4(CTNNB1):c.910T>G (p.Leu304Val) rs1187302576
NM_001904.4(CTNNB1):c.911T>C (p.Leu304Ser) rs2125624809
NM_001904.4(CTNNB1):c.929A>G (p.Glu310Gly) rs2470791111
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter) rs778624338

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