ClinVar Miner

List of variants studied for attenuated familial adenomatous polyposis by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_006231.4(POLE):c.4306C>T (p.Arg1436Trp) rs764904030 0.00004
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_000038.6(APC):c.6974G>A (p.Gly2325Asp) rs1554087886 0.00001
NM_000038.6(APC):c.1315C>G (p.Pro439Ala) rs1561545795
NM_000038.6(APC):c.1720G>T (p.Glu574Ter) rs1764024563
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.2299C>T (p.Gln767Ter) rs1561575998
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)
NM_000038.6(APC):c.3559dup (p.Ile1187fs)
NM_000038.6(APC):c.4222G>T (p.Glu1408Ter)
NM_000038.6(APC):c.4285C>T (p.Gln1429Ter) rs74535574
NM_000038.6(APC):c.646-2A>C

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