ClinVar Miner

List of variants reported as pathogenic for attenuated familial adenomatous polyposis by Mendelics

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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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
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_000038.5(APC):c.792del (p.Gly265Glufs) rs863224459
NM_000038.6(APC):c.1467_1479del (p.Asn490fs) rs1580565026
NM_000038.6(APC):c.1886T>A (p.Leu629Ter) rs1019221239
NM_000038.6(APC):c.1895_1958+28del rs1561569140
NM_000038.6(APC):c.2334_2337del (p.Asn778fs) rs1580620655
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3374dup (p.Ser1126fs) rs1561584336
NM_000038.6(APC):c.4203dup (p.Ala1402fs) rs1580645285
NM_000038.6(APC):c.4501del (p.Ser1501fs) rs1580648975
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.337del (p.Gln113fs) rs1553129638
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451

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