ClinVar Miner

List of variants reported as likely pathogenic for Familial adenomatous polyposis 2 by All of Us Research Program, National Institutes of Health

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.-6-2A>G rs1383826978 0.00001
NM_001048174.2(MUTYH):c.1434+1G>C rs876659420 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu) rs768553551 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.115+2T>G
NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter) rs1437789978
NM_001048174.2(MUTYH):c.1393-2A>G
NM_001048174.2(MUTYH):c.1434+1G>T rs876659420
NM_001048174.2(MUTYH):c.310del (p.Val104fs) rs1553129676
NM_001048174.2(MUTYH):c.379-1G>A rs1057520660
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.509_512del (p.Gly170fs)
NM_001048174.2(MUTYH):c.516dup (p.Met173fs)
NM_001048174.2(MUTYH):c.606+1G>A
NM_001048174.2(MUTYH):c.727dup (p.Asp243fs)
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001048174.2(MUTYH):c.849+1G>A
NM_001048174.2(MUTYH):c.850-1G>A
NM_001128425.2(MUTYH):c.36+1G>T

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