ClinVar Miner

List of variants studied for attenuated familial adenomatous polyposis by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_000038.6(APC):c.1742del (p.Lys581fs) rs1060503259
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381

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