ClinVar Miner

List of variants studied for attenuated familial adenomatous polyposis by Division of Medical Genetics, University of Washington

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_000038.6(APC):c.447C>A (p.Asp149Glu) rs750821213 0.00001
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) rs200406572 0.00001
NM_006231.4(POLE):c.725A>G (p.His242Arg) rs767612904 0.00001
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.968G>C (p.Gly323Ala) rs1554079954
NM_001048174.2(MUTYH):c.420+2T>C rs587782730
NM_006231.4(POLE):c.6531+5G>T rs368538240

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