ClinVar Miner

List of variants reported as uncertain significance for Familial adenomatous polyposis 2 by Counsyl

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001048174.2(MUTYH):c.116-54C>T rs367908623 0.00030
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr) rs141432759 0.00019
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr) rs587782263 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala) rs375597447 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys) rs587780748 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr) rs587778534 0.00004
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) rs369410616 0.00003
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu) rs587778538 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp) rs369299948 0.00002
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120 0.00002
NM_001048174.2(MUTYH):c.1321G>A (p.Val441Ile) rs779701238 0.00002
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419 0.00002
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met) rs587780084 0.00001
NM_001048174.2(MUTYH):c.1222C>G (p.Leu408Val) rs587782043 0.00001
NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His) rs587782794 0.00001
NM_001048174.2(MUTYH):c.1453G>T (p.Val485Leu) rs780209880 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys) rs200747973 0.00001
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr) rs201103359 0.00001
NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp) rs773674701 0.00001
NM_001048174.2(MUTYH):c.467G>A (p.Arg156Gln) rs758567247 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.592A>G (p.Ile198Val) rs200965879 0.00001
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr) rs369854269 0.00001
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val) rs587782764 0.00001
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys) rs199840380 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001048174.2(MUTYH):c.988T>C (p.Phe330Leu) rs587781601 0.00001
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu) rs587781374 0.00001
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val) rs587780747 0.00001
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val) rs144079536
NM_001048174.2(MUTYH):c.1193G>T (p.Arg398Leu) rs748700385
NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met) rs767747402
NM_001048174.2(MUTYH):c.1402G>A (p.Val468Met) rs587781385
NM_001048174.2(MUTYH):c.1486A>T (p.Met496Leu) rs587780080
NM_001048174.2(MUTYH):c.1504G>C (p.Asp502His) rs147923905
NM_001048174.2(MUTYH):c.194_199del (p.Val65_Thr66del) rs1553130269
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val) rs1057517460
NM_001048174.2(MUTYH):c.38G>A (p.Arg13Lys) rs587782693
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp) rs761101420
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser) rs786201772
NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr) rs786204112
NM_001048174.2(MUTYH):c.882C>G (p.Ser294Arg) rs138833473
NM_001048174.2(MUTYH):c.916C>A (p.Pro306Thr) rs587778537
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538
NM_001128425.2(MUTYH):c.167G>T (p.Gly56Val) rs587781374
NM_025077.4(TOE1):c.-54G>T rs540793556

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