ClinVar Miner

List of variants studied for attenuated familial adenomatous polyposis by GeneReviews

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001128425.1(MUTYH):c.348+33_*210delinsTA

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