ClinVar Miner

List of variants in gene AXIN2 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NC_000017.10:g.(?_63526094)_(63554738_?)del
NC_000017.10:g.(?_63531734)_(63554738_?)del
NC_000017.10:g.(?_63534311)_(63537685_?)del
NC_000017.11:g.(?_65536314)_(65536559_?)del
NM_004655.4(AXIN2):c.1008_1009del (p.Glu336fs)
NM_004655.4(AXIN2):c.1036C>T (p.Gln346Ter) rs1598104209
NM_004655.4(AXIN2):c.1045_1046del (p.Leu349fs) rs2144499916
NM_004655.4(AXIN2):c.10_11del (p.Ala4fs) rs2144592396
NM_004655.4(AXIN2):c.1177G>T (p.Glu393Ter)
NM_004655.4(AXIN2):c.1186C>T (p.Gln396Ter)
NM_004655.4(AXIN2):c.1195C>T (p.Arg399Ter) rs1157452251
NM_004655.4(AXIN2):c.1214_1215del (p.Glu405fs) rs771001164
NM_004655.4(AXIN2):c.1214_1215dup (p.Gly406fs) rs771001164
NM_004655.4(AXIN2):c.1249del (p.Ala417fs) rs2043961707
NM_004655.4(AXIN2):c.1293C>G (p.Tyr431Ter) rs552141978
NM_004655.4(AXIN2):c.1329dup (p.Ser444fs) rs2144465819
NM_004655.4(AXIN2):c.1336del (p.Val446fs)
NM_004655.4(AXIN2):c.1357C>T (p.Gln453Ter)
NM_004655.4(AXIN2):c.1396_1447del (p.Ser466fs)
NM_004655.4(AXIN2):c.1432del (p.His478fs) rs2144462978
NM_004655.4(AXIN2):c.1442_1449del (p.Leu481fs)
NM_004655.4(AXIN2):c.144del (p.Met49fs)
NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs) rs1567755946
NM_004655.4(AXIN2):c.1474_1492del (p.Ala492fs)
NM_004655.4(AXIN2):c.1511del (p.Gly504fs) rs2144460694
NM_004655.4(AXIN2):c.1593del (p.Ile531fs)
NM_004655.4(AXIN2):c.1594G>T (p.Glu532Ter) rs755551294
NM_004655.4(AXIN2):c.1598_1613dup (p.Val539fs) rs2043947540
NM_004655.4(AXIN2):c.1614_1642del (p.His540fs) rs2144457222
NM_004655.4(AXIN2):c.1637del (p.Gly546fs) rs1555577625
NM_004655.4(AXIN2):c.1642G>T (p.Glu548Ter) rs367624903
NM_004655.4(AXIN2):c.1646del (p.Tyr549fs) rs1555577613
NM_004655.4(AXIN2):c.1659del (p.Lys554fs) rs2144456730
NM_004655.4(AXIN2):c.1669del (p.Ser557fs)
NM_004655.4(AXIN2):c.1705C>T (p.Gln569Ter) rs2144455707
NM_004655.4(AXIN2):c.173del (p.Asn58fs) rs2044308192
NM_004655.4(AXIN2):c.190del (p.Glu64fs)
NM_004655.4(AXIN2):c.1912C>T (p.Gln638Ter) rs1598097196
NM_004655.4(AXIN2):c.1929_1935del (p.Tyr644fs)
NM_004655.4(AXIN2):c.1932C>A (p.Tyr644Ter)
NM_004655.4(AXIN2):c.194_195del (p.Pro65fs) rs1555583659
NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter) rs121908568
NM_004655.4(AXIN2):c.196G>T (p.Glu66Ter)
NM_004655.4(AXIN2):c.1988G>A (p.Trp663Ter)
NM_004655.4(AXIN2):c.1989G>A (p.Trp663Ter) rs730882193
NM_004655.4(AXIN2):c.1993_1994delinsT (p.Gly665fs)
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.1994dup (p.Asn666fs) rs267606674
NM_004655.4(AXIN2):c.2012_2022del (p.Arg671fs)
NM_004655.4(AXIN2):c.2023dup (p.Arg675fs) rs1555577121
NM_004655.4(AXIN2):c.2038_2039del (p.Thr680fs) rs2144441207
NM_004655.4(AXIN2):c.2052del (p.Met685fs) rs2144440894
NM_004655.4(AXIN2):c.2137C>T (p.Gln713Ter) rs2043913790
NM_004655.4(AXIN2):c.2145_2151del (p.Cys715fs) rs2144433886
NM_004655.4(AXIN2):c.2167dup (p.Asp723fs)
NM_004655.4(AXIN2):c.2191C>T (p.Gln731Ter)
NM_004655.4(AXIN2):c.2278C>T (p.Gln760Ter)
NM_004655.4(AXIN2):c.2298_2302dup (p.Tyr768fs)
NM_004655.4(AXIN2):c.229del (p.Arg77fs)
NM_004655.4(AXIN2):c.2303_2304insAA (p.Tyr768Ter)
NM_004655.4(AXIN2):c.2303_2306del (p.Tyr768fs) rs1598093952
NM_004655.4(AXIN2):c.2304C>A (p.Tyr768Ter) rs2144419495
NM_004655.4(AXIN2):c.2309del (p.Phe770fs) rs1299440644
NM_004655.4(AXIN2):c.2331C>G (p.Tyr777Ter) rs2043866331
NM_004655.4(AXIN2):c.233G>A (p.Trp78Ter) rs2144589420
NM_004655.4(AXIN2):c.234G>A (p.Trp78Ter) rs1567769335
NM_004655.4(AXIN2):c.293del (p.Phe98fs)
NM_004655.4(AXIN2):c.333G>A (p.Trp111Ter) rs1598119889
NM_004655.4(AXIN2):c.364del (p.Asn121_Leu122insTer) rs2044303218
NM_004655.4(AXIN2):c.385C>T (p.Arg129Ter)
NM_004655.4(AXIN2):c.537dup (p.Ser180fs)
NM_004655.4(AXIN2):c.562C>T (p.Gln188Ter)
NM_004655.4(AXIN2):c.579_717del (p.Asp194fs) rs2144582778
NM_004655.4(AXIN2):c.726del (p.Lys242fs)
NM_004655.4(AXIN2):c.730dup (p.Ser244fs) rs1056103847
NM_004655.4(AXIN2):c.731del (p.Ser244fs) rs2144582634
NM_004655.4(AXIN2):c.763_764del (p.Leu255fs) rs1598118962
NM_004655.4(AXIN2):c.764dup (p.Arg256fs)
NM_004655.4(AXIN2):c.801dup (p.Asp268Ter) rs2144581824
NM_004655.4(AXIN2):c.867_868insA (p.Val290fs)
NM_004655.4(AXIN2):c.973dup (p.Tyr325fs) rs2144500829

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