ClinVar Miner

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

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu) rs587780079 0.00010
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.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542 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.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001048174.2(MUTYH):c.395A>G (p.Gln132Arg) rs1212933615 0.00003
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120 0.00002
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp) rs587781645 0.00002
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp) rs587778539 0.00001
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys) rs200747973 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.986A>G (p.Asn329Ser) rs754178539 0.00001
NM_001048174.2(MUTYH):c.1072C>G (p.Gln358Glu) rs878854183
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val) rs144079536
NM_001048174.2(MUTYH):c.1434+3A>T rs1553123967
NM_001048174.2(MUTYH):c.14G>C (p.Arg5Pro) rs587780081
NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu) rs1557444106
NM_001048174.2(MUTYH):c.181G>C (p.Asp61His) rs1557486724
NM_001048174.2(MUTYH):c.278T>C (p.Met93Thr) rs1557484437
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser) rs764458059
NM_001048174.2(MUTYH):c.493-5A>T rs758377868
NM_001048174.2(MUTYH):c.571A>G (p.Thr191Ala) rs771064557
NM_001048174.2(MUTYH):c.606+3G>C rs1553128340
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser) rs587782351
NM_001048174.2(MUTYH):c.743G>A (p.Gly248Glu) rs1557471507

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