ClinVar Miner

List of variants studied for Familial adenomatous polyposis 2 by Human Genetics Bochum, Ruhr University Bochum

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser) rs786201772
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459

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