ClinVar Miner

List of variants studied for Familial adenomatous polyposis 2 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) rs149262370 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln) rs140156029 0.00009
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys) rs587781668 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001048174.2(MUTYH):c.683C>T (p.Thr228Ile) rs766173546 0.00001
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val) rs587782764 0.00001
NM_001048174.2(MUTYH):c.1058G>C (p.Gly353Ala)
NM_001048174.2(MUTYH):c.1088A>G (p.Gln363Arg) rs984795084
NM_001048174.2(MUTYH):c.1489G>A (p.Gly497Ser) rs2149088733
NM_001048174.2(MUTYH):c.1490G>A (p.Gly497Asp)
NM_001048174.2(MUTYH):c.305-1G>A rs372267274
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.569A>G (p.Tyr190Cys) rs1570415740
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538

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