ClinVar Miner

List of variants in gene APC reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 34
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HGVS dbSNP
NM_000038.5(APC):c.1548+3_1548+4delAT rs886039510
NM_000038.6(APC):c.1312+5G>C rs886039507
NM_000038.6(APC):c.1377_1383del (p.Glu460fs) rs1554080716
NM_000038.6(APC):c.1409-6A>G rs886039508
NM_000038.6(APC):c.1522_1523del (p.Leu508fs) rs886039509
NM_000038.6(APC):c.1715T>A (p.Leu572Ter) rs886039511
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1958+3A>T rs879254032
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3569C>A (p.Ser1190Ter) rs886039618
NM_000038.6(APC):c.3607G>T (p.Gly1203Ter) rs1057518472
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4741del (p.Ser1581fs) rs886039682
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) rs886039641
NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer) rs886039642
NM_000038.6(APC):c.5234dup (p.Ile1746fs) rs1554086550
NM_000038.6(APC):c.5569del (p.Ser1857fs) rs1064795688
NM_000038.6(APC):c.573T>A (p.Tyr191Ter) rs185154886
NM_000038.6(APC):c.6010dup (p.Ala2004fs) rs879254226
NM_000038.6(APC):c.6055_6058GTTT[1] (p.Cys2020fs) rs876660174
NM_000038.6(APC):c.6093_6095delinsAC (p.Ser2031fs) rs879254155
NM_000038.6(APC):c.6099_6100CT[1] (p.Asp2033_Ser2034insTer) rs886039638
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.7139_7142AACA[1] (p.Thr2382fs) rs886039687
NM_000038.6(APC):c.7391_7392CT[1] (p.Leu2465fs) rs1554088313
NM_000038.6(APC):c.7891del (p.Ser2631fs) rs1554088726
NM_000038.6(APC):c.7931_7937del (p.Ile2644fs) rs886039639
NM_000038.6(APC):c.800dup (p.Glu268fs) rs863225372

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