ClinVar Miner

List of variants reported as likely pathogenic for familial adenomatous polyposis 2 by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) rs143353451 0.00006
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln) rs1060501346 0.00003
NM_001048174.2(MUTYH):c.-6-2A>G rs1383826978 0.00001
NM_001048174.2(MUTYH):c.115+1G>A rs1330675110 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro) rs761763725 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_001128425.2(MUTYH):c.36+1G>A rs1553136984 0.00001
NC_000001.10:g.(?_45794978)_(45795123_?)del
NC_000001.10:g.(?_45796178)_(45796257_?)del
NC_000001.10:g.(?_45800053)_(45800193_?)dup
NC_000001.10:g.(?_45800057)_(45800189_?)dup
NC_000001.11:g.(?_45329300)_(45330563_?)del
NM_001048174.2(MUTYH):c.-6-2A>T
NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs) rs768130289
NM_001048174.2(MUTYH):c.1087dup (p.Gln363fs)
NM_001048174.2(MUTYH):c.1103-32_1115del rs886039606
NM_001048174.2(MUTYH):c.1239+1G>T rs1644818073
NM_001048174.2(MUTYH):c.1240-1G>A rs876660837
NM_001048174.2(MUTYH):c.1240-1G>C
NM_001048174.2(MUTYH):c.1240-2A>G
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) rs1553125075
NM_001048174.2(MUTYH):c.1322_1323del (p.Val441fs) rs2149112658
NM_001048174.2(MUTYH):c.1323_1332dup (p.Ala445fs) rs2149112377
NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs) rs1553124893
NM_001048174.2(MUTYH):c.1392_1392+6del rs864621967
NM_001048174.2(MUTYH):c.1393-1G>A rs1057517459
NM_001048174.2(MUTYH):c.1393-2_1393-1del rs1570346782
NM_001048174.2(MUTYH):c.1405dup (p.Tyr469fs)
NM_001048174.2(MUTYH):c.1414C>T (p.Gln472Ter) rs1644624908
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter) rs932830392
NM_001048174.2(MUTYH):c.1418del (p.Gln473fs)
NM_001048174.2(MUTYH):c.1434+2T>C rs2149102678
NM_001048174.2(MUTYH):c.1434+2del rs2149102703
NM_001048174.2(MUTYH):c.1435-2A>G rs1553123105
NM_001048174.2(MUTYH):c.1446_1479del (p.Arg482fs)
NM_001048174.2(MUTYH):c.1446del (p.Arg482fs) rs2149090006
NM_001048174.2(MUTYH):c.1457_1487del (p.Ser486fs) rs2149088820
NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs) rs1553123017
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) rs587782716
NM_001048174.2(MUTYH):c.1468del (p.Ser490fs) rs878854186
NM_001048174.2(MUTYH):c.241C>G (p.Arg81Gly) rs765123255
NM_001048174.2(MUTYH):c.247C>G (p.Leu83Val) rs2149172338
NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro) rs1557485553
NM_001048174.2(MUTYH):c.264+1G>A rs1553130042
NM_001048174.2(MUTYH):c.264+1G>T rs1553130042
NM_001048174.2(MUTYH):c.304+1G>A
NM_001048174.2(MUTYH):c.304+2T>G
NM_001048174.2(MUTYH):c.378+1del
NM_001048174.2(MUTYH):c.378+2T>G rs1553129521
NM_001048174.2(MUTYH):c.379-1G>A rs1057520660
NM_001048174.2(MUTYH):c.379-4_382del
NM_001048174.2(MUTYH):c.420+1_493-25del rs1645164432
NM_001048174.2(MUTYH):c.420+2T>C rs587782730
NM_001048174.2(MUTYH):c.420+2T>G rs587782730
NM_001048174.2(MUTYH):c.421-1G>A
NM_001048174.2(MUTYH):c.493-1G>A rs1423002555
NM_001048174.2(MUTYH):c.493-2A>G rs1553128663
NM_001048174.2(MUTYH):c.606+1G>T rs878854193
NM_001048174.2(MUTYH):c.607-1G>A rs1557474906
NM_001048174.2(MUTYH):c.607-2A>C
NM_001048174.2(MUTYH):c.607-2A>T rs1361763237
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly) rs587782885
NM_001048174.2(MUTYH):c.695_705-10del rs1557472384
NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser) rs1570406302
NM_001048174.2(MUTYH):c.705-2A>C rs1645057147
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val) rs876659676
NM_001048174.2(MUTYH):c.849+1G>A
NM_001048174.2(MUTYH):c.849+1G>T rs2149136521
NM_001048174.2(MUTYH):c.849+2T>G rs1060501333
NM_001048174.2(MUTYH):c.913+1G>A rs2149133294
NM_001048174.2(MUTYH):c.942_1042del (p.Leu315fs)
NM_001048174.2(MUTYH):c.980dup (p.Val328fs)
NM_001128425.2(MUTYH):c.158-2A>G rs587782066

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