ClinVar Miner

List of variants in gene AXIN2 reported as likely pathogenic

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser) rs62640028 0.00043
NM_004655.4(AXIN2):c.2447C>T (p.Ala816Val) rs755508971 0.00002
NM_004655.4(AXIN2):c.1201-2A>G rs775783026 0.00001
NM_004655.4(AXIN2):c.1713-2A>G rs766170422 0.00001
NM_004655.4(AXIN2):c.1908-2A>G rs978837790 0.00001
NM_004655.4(AXIN2):c.815+1G>A rs781384784 0.00001
NM_004655.4(AXIN2):c.1032_1038del (p.Asn344fs) rs2044041935
NM_004655.4(AXIN2):c.1059+1G>C
NM_004655.4(AXIN2):c.1059+5G>C
NM_004655.4(AXIN2):c.1060-1G>C rs2043981878
NM_004655.4(AXIN2):c.1060-2A>G rs2144478938
NM_004655.4(AXIN2):c.1150G>T (p.Glu384Ter)
NM_004655.4(AXIN2):c.1154T>A (p.Leu385Ter)
NM_004655.4(AXIN2):c.1186C>T (p.Gln396Ter)
NM_004655.4(AXIN2):c.1200+1G>A rs2144475422
NM_004655.4(AXIN2):c.1201-1G>C rs2144468895
NM_004655.4(AXIN2):c.1408dup (p.His470fs) rs2144463649
NM_004655.4(AXIN2):c.1479_1497dup (p.Leu500fs) rs2144461122
NM_004655.4(AXIN2):c.1647T>G (p.Tyr549Ter) rs2144457016
NM_004655.4(AXIN2):c.1712+1G>T
NM_004655.4(AXIN2):c.1712+2T>C
NM_004655.4(AXIN2):c.1713-1G>A rs1309148182
NM_004655.4(AXIN2):c.1907+1G>A rs2043930740
NM_004655.4(AXIN2):c.1932C>A (p.Tyr644Ter)
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2041C>T (p.Gln681Ter) rs911977110
NM_004655.4(AXIN2):c.2045dup (p.Asp682fs)
NM_004655.4(AXIN2):c.204_214del (p.Ala69fs) rs2144589643
NM_004655.4(AXIN2):c.2062_2063del (p.Leu688fs) rs2144440630
NM_004655.4(AXIN2):c.2137C>T (p.Gln713Ter) rs2043913790
NM_004655.4(AXIN2):c.2141+2T>C rs2144438870
NM_004655.4(AXIN2):c.2142-1G>C
NM_004655.4(AXIN2):c.2172del (p.Asn725fs)
NM_004655.4(AXIN2):c.2205_2206dup (p.Pro736fs)
NM_004655.4(AXIN2):c.2237+1G>A
NM_004655.4(AXIN2):c.2237+1G>T rs2144432097
NM_004655.4(AXIN2):c.2278C>T (p.Gln760Ter)
NM_004655.4(AXIN2):c.2304del (p.Phe770fs)
NM_004655.4(AXIN2):c.2309del (p.Phe770fs) rs1299440644
NM_004655.4(AXIN2):c.2428G>C (p.Asp810His) rs140344858
NM_004655.4(AXIN2):c.666_667del (p.Cys222fs)
NM_004655.4(AXIN2):c.74del (p.Pro25fs)
NM_004655.4(AXIN2):c.815+1G>C rs781384784
NM_004655.4(AXIN2):c.816-1G>A
NM_004655.4(AXIN2):c.816-2A>G
NM_004655.4(AXIN2):c.94del (p.Glu32fs)
NM_004655.4(AXIN2):c.956+1G>A rs2144537386
NM_004655.4(AXIN2):c.957-1G>C
NM_004655.4(AXIN2):c.973dup (p.Tyr325fs) rs2144500829

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