ClinVar Miner

List of variants reported as pathogenic for Familial adenomatous polyposis 2 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 5
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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.849+3A>C rs587780751 0.00013
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941

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