ClinVar Miner

List of variants studied for Familial adenomatous polyposis 2 by MGZ Medical Genetics Center

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Total variants: 14
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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.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) rs138775799 0.00004
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) rs587778537 0.00002
NM_001048174.2(MUTYH):c.1230C>A (p.His410Gln)
NM_001048174.2(MUTYH):c.1232T>G (p.Leu411Arg)
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) rs587782716
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp) rs761101420
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749

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