ClinVar Miner

List of variants studied for attenuated familial adenomatous polyposis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_025077.4(TOE1):c.52+77G>A rs3219466 0.02177
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_025077.4(TOE1):c.52+127A>G rs567826303 0.00126
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.264+11G>A rs139977567 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001048174.2(MUTYH):c.-6-14T>A rs587781284 0.00026
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=) rs202240122 0.00017
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=) rs143796254 0.00011
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_025077.4(TOE1):c.52+115G>A rs916470183 0.00009
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=) rs201412035 0.00007
NM_001048174.2(MUTYH):c.305-13C>G rs201207780 0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=) rs730881838 0.00006
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) rs138775799 0.00004
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.128A>G (p.Gln43Arg) rs767237971 0.00001
NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His) rs587782794 0.00001
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys) rs200747973 0.00001
NM_001048174.2(MUTYH):c.305-7C>A rs863224698 0.00001
NM_001048174.2(MUTYH):c.492G>A (p.Lys164=) rs876660092 0.00001
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr) rs369854269 0.00001
NM_001048174.2(MUTYH):c.*34GTT[1] rs373507005
NM_001048174.2(MUTYH):c.1053G>A (p.Gln351=) rs886046366
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.1393-11T>G rs868701952
NM_001048174.2(MUTYH):c.1435-5C>A rs886046365
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.305-4C>G rs767717597
NM_001048174.2(MUTYH):c.55C>T (p.Gln19Ter) rs886046367
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=) rs760321509
NM_025077.4(TOE1):c.52+50G>T rs533908646

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