ClinVar Miner

List of variants reported as pathogenic for Familial adenomatous polyposis 2 by OMIM

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Total variants: 7
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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.452A>G (p.Tyr151Cys) rs34612342 0.00168
NC_000001.11:g.45329096_45333380delinsTA
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.1377del (p.Thr460fs) rs146331482
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380

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