ClinVar Miner

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

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) rs370124822 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) rs768386527 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1530dup (p.Gly511fs) rs1554081749
NM_000038.6(APC):c.1548+2T>C rs1057517561
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.3013_3019del (p.Ala1005fs) rs1057517553
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.388del (p.Ser130fs) rs1554069828
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.4619_4620del (p.Glu1540fs) rs1554086015
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs) rs1554086854
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter) rs1554086862
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) rs1057517544
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.933+2T>C rs1057517559
NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs) rs1553125766
NM_001048174.2(MUTYH):c.1311dup (p.Val438fs) rs1553125100
NM_001048174.2(MUTYH):c.1393-1G>A rs1057517459
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) rs1553128813
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001048174.2(MUTYH):c.994del (p.Arg332fs) rs1057517456
NM_001127510.3(APC):c.1917dup (p.Arg640fs) rs397515732
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958

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