ClinVar Miner

List of variants in gene MUTYH, TOE1 studied for Familial adenomatous polyposis 2

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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_001128425.2(MUTYH):c.-127C>T rs3219466 0.02177
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_001128425.2(MUTYH):c.-177T>C rs567826303 0.00126
NM_001128425.2(MUTYH):c.-165C>T rs916470183 0.00009
NM_001128425.2(MUTYH):c.36+7T>C rs1211077933 0.00005
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) rs587782837 0.00002
NM_001128425.2(MUTYH):c.-147C>T rs992028783 0.00001
NM_001128425.2(MUTYH):c.-180T>C rs1215187269 0.00001
NM_001128425.2(MUTYH):c.19C>G (p.Arg7Gly) rs1382218222 0.00001
NM_001128425.2(MUTYH):c.2T>C (p.Met1Thr) rs865954220 0.00001
NM_001128425.2(MUTYH):c.36+1G>A rs1553136984 0.00001
NM_001128425.2(MUTYH):c.36+3A>T rs759654665 0.00001
NM_001128425.2(MUTYH):c.36+4C>G rs774530388 0.00001
NM_001128425.2(MUTYH):c.36+5G>A rs876658588 0.00001
NM_001128425.2(MUTYH):c.8C>G (p.Pro3Arg) rs745424307 0.00001
NC_000001.10:g.(?_45794968)_(45805936_?)dup
NC_000001.10:g.(?_45800053)_(45809328_?)dup
NC_000001.10:g.(?_45805881)_(45809328_?)del
NC_000001.11:g.(?_45329306)_(45343656_?)dup
NC_000001.11:g.(?_45340209)_(45343656_?)dup
NM_001128425.2(MUTYH):c.-100C>A rs533908646
NM_001128425.2(MUTYH):c.-10G>A
NM_001128425.2(MUTYH):c.-126T>C rs547694371
NM_001128425.2(MUTYH):c.-2C>G rs781609463
NM_001128425.2(MUTYH):c.-3G>C
NM_001128425.2(MUTYH):c.-3G>T rs748689064
NM_001128425.2(MUTYH):c.-7G>A
NM_001128425.2(MUTYH):c.-7GGC[1]
NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe) rs587782404
NM_001128425.2(MUTYH):c.12C>A (p.Leu4=) rs876659717
NM_001128425.2(MUTYH):c.12C>T (p.Leu4=) rs876659717
NM_001128425.2(MUTYH):c.13G>A (p.Val5Ile) rs786201933
NM_001128425.2(MUTYH):c.13G>C (p.Val5Leu) rs786201933
NM_001128425.2(MUTYH):c.14T>C (p.Val5Ala) rs1553137063
NM_001128425.2(MUTYH):c.14_36+4dup
NM_001128425.2(MUTYH):c.15C>A (p.Val5=) rs1553137062
NM_001128425.2(MUTYH):c.17C>G (p.Ser6Cys) rs587782837
NM_001128425.2(MUTYH):c.19C>T (p.Arg7Cys) rs1382218222
NM_001128425.2(MUTYH):c.1A>C (p.Met1Leu) rs1646823787
NM_001128425.2(MUTYH):c.1A>G (p.Met1Val) rs1646823787
NM_001128425.2(MUTYH):c.1_7dup (p.Pro3fs) rs1646822375
NM_001128425.2(MUTYH):c.20G>A (p.Arg7His) rs1114167687
NM_001128425.2(MUTYH):c.20G>T (p.Arg7Leu) rs1114167687
NM_001128425.2(MUTYH):c.21C>T (p.Arg7=) rs2149248899
NM_001128425.2(MUTYH):c.22C>G (p.Leu8Val)
NM_001128425.2(MUTYH):c.22C>T (p.Leu8=) rs753502884
NM_001128425.2(MUTYH):c.23T>C (p.Leu8Pro)
NM_001128425.2(MUTYH):c.23T>G (p.Leu8Arg) rs1570591840
NM_001128425.2(MUTYH):c.24G>C (p.Leu8=) rs1570591790
NM_001128425.2(MUTYH):c.26G>A (p.Ser9Asn) rs1570591736
NM_001128425.2(MUTYH):c.27T>A (p.Ser9Arg)
NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)
NM_001128425.2(MUTYH):c.29G>A (p.Arg10His) rs755928199
NM_001128425.2(MUTYH):c.29G>C (p.Arg10Pro) rs755928199
NM_001128425.2(MUTYH):c.2T>A (p.Met1Lys) rs865954220
NM_001128425.2(MUTYH):c.2T>G (p.Met1Arg) rs865954220
NM_001128425.2(MUTYH):c.30T>C (p.Arg10=)
NM_001128425.2(MUTYH):c.31C>G (p.Leu11Val) rs878854188
NM_001128425.2(MUTYH):c.31C>T (p.Leu11=) rs878854188
NM_001128425.2(MUTYH):c.32T>C (p.Leu11Pro)
NM_001128425.2(MUTYH):c.32T>G (p.Leu11Arg) rs752665489
NM_001128425.2(MUTYH):c.33G>A (p.Leu11=)
NM_001128425.2(MUTYH):c.34T>A (p.Trp12Arg) rs1060501343
NM_001128425.2(MUTYH):c.34T>C (p.Trp12Arg) rs1060501343
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) rs1064795596
NM_001128425.2(MUTYH):c.35G>C (p.Trp12Ser) rs1064795596
NM_001128425.2(MUTYH):c.36+10A>C rs201746729
NM_001128425.2(MUTYH):c.36+10A>G rs201746729
NM_001128425.2(MUTYH):c.36+11C>G rs2275602
NM_001128425.2(MUTYH):c.36+13T>C
NM_001128425.2(MUTYH):c.36+13T>G
NM_001128425.2(MUTYH):c.36+14G>C
NM_001128425.2(MUTYH):c.36+16G>A
NM_001128425.2(MUTYH):c.36+16G>C
NM_001128425.2(MUTYH):c.36+16G>T
NM_001128425.2(MUTYH):c.36+18T>A
NM_001128425.2(MUTYH):c.36+1G>T
NM_001128425.2(MUTYH):c.36+20C>A rs540793556
NM_001128425.2(MUTYH):c.36+20C>G rs540793556
NM_001128425.2(MUTYH):c.36+20C>T rs540793556
NM_001128425.2(MUTYH):c.36+2T>C
NM_001128425.2(MUTYH):c.36+3A>G rs759654665
NM_001128425.2(MUTYH):c.36+4C>A
NM_001128425.2(MUTYH):c.36+4C>T rs774530388
NM_001128425.2(MUTYH):c.36+4dup rs1557517901
NM_001128425.2(MUTYH):c.36+5G>C
NM_001128425.2(MUTYH):c.36+5G>T rs876658588
NM_001128425.2(MUTYH):c.36+6C>G rs1553136962
NM_001128425.2(MUTYH):c.36+6C>T
NM_001128425.2(MUTYH):c.36+7T>G rs1211077933
NM_001128425.2(MUTYH):c.36+8G>A rs1060504202
NM_001128425.2(MUTYH):c.36+9G>A rs766584437
NM_001128425.2(MUTYH):c.36+9G>C
NM_001128425.2(MUTYH):c.36+9G>T rs766584437
NM_001128425.2(MUTYH):c.36+9del rs2149248491
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter) rs767402084
NM_001128425.2(MUTYH):c.36G>C (p.Trp12Cys) rs767402084
NM_001128425.2(MUTYH):c.36G>T (p.Trp12Cys) rs767402084
NM_001128425.2(MUTYH):c.4A>C (p.Thr2Pro) rs1646822689
NM_001128425.2(MUTYH):c.5C>T (p.Thr2Ile) rs2149249222
NM_001128425.2(MUTYH):c.8C>T (p.Pro3Leu) rs745424307
NM_001128425.2(MUTYH):c.9G>A (p.Pro3=) rs958040221
NM_001128425.2(MUTYH):c.9G>C (p.Pro3=) rs958040221
NM_001128425.2(MUTYH):c.9G>T (p.Pro3=) rs958040221
NM_001128425.2(MUTYH):c.9_10delinsAA (p.Leu4Ile) rs1064794772

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