ClinVar Miner

List of variants in gene APC reported as likely pathogenic by Ambry Genetics

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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) rs1114167617 0.00001
NM_000038.6(APC):c.1312+1G>T rs863225310
NM_000038.6(APC):c.135+1G>C
NM_000038.6(APC):c.135+1G>T rs750508765
NM_000038.6(APC):c.136-1G>A rs1554069481
NM_000038.6(APC):c.1409-3T>G rs1554081629
NM_000038.6(APC):c.1549-8A>G
NM_000038.6(APC):c.1626+2T>G rs876658858
NM_000038.6(APC):c.1627-3C>A
NM_000038.6(APC):c.1743+1G>T rs761458613
NM_000038.6(APC):c.1743+2T>A
NM_000038.6(APC):c.1743+2T>C
NM_000038.6(APC):c.1743G>C (p.Lys581Asn) rs1114167592
NM_000038.6(APC):c.1743G>T (p.Lys581Asn)
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.1959-2A>C
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.1987C>T (p.Gln663Ter) rs730881240
NM_000038.6(APC):c.220+3A>G rs1554069573
NM_000038.6(APC):c.221-1G>A rs863225327
NM_000038.6(APC):c.2877_2898del (p.Asn961fs)
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser) rs1114167603
NM_000038.6(APC):c.3443_3444del (p.Tyr1147_Ser1148insTer) rs1765424969
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) rs587779790
NM_000038.6(APC):c.386A>T (p.Glu129Val) rs759662717
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile) rs876660713
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.423-3958C>T
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs)
NM_000038.6(APC):c.4732T>C (p.Cys1578Arg) rs138367627
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4735A>T (p.Ile1579Phe) rs587781935
NM_000038.6(APC):c.4778dup (p.Pro1594fs)
NM_000038.6(APC):c.5155G>T (p.Glu1719Ter)
NM_000038.6(APC):c.531+3A>C rs1114167550
NM_000038.6(APC):c.531+5G>A rs587779798
NM_000038.6(APC):c.532-934A>T
NM_000038.6(APC):c.6102del (p.Glu2035fs) rs2149957064
NM_000038.6(APC):c.6281del (p.Pro2094fs) rs876660816
NM_000038.6(APC):c.645+2T>G rs786202351
NM_000038.6(APC):c.6567del (p.Gly2190fs)
NM_000038.6(APC):c.6760A>T (p.Lys2254Ter) rs2149972499
NM_000038.6(APC):c.6919dup (p.Ser2307fs)
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) rs79630786
NM_000038.6(APC):c.7570A>T (p.Lys2524Ter)
NM_000038.6(APC):c.7612A>T (p.Arg2538Ter)
NM_000038.6(APC):c.7664C>A (p.Ser2555Ter)
NM_000038.6(APC):c.7692dup (p.Arg2565fs) rs1554088600
NM_000038.6(APC):c.7803_7807del (p.Ser2601fs) rs1580686729
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
NM_000038.6(APC):c.7935T>A (p.Tyr2645Ter)
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs) rs2149997043
NM_000038.6(APC):c.8099_8102del (p.Asn2700fs) rs1580690024
NM_000038.6(APC):c.8310_8311del (p.His2770fs) rs1561622234
NM_000038.6(APC):c.8332dup (p.Ala2778fs)
NM_000038.6(APC):c.835-17A>G rs1580511131
NM_000038.6(APC):c.835-8A>G rs1064793022
NM_000038.6(APC):c.8425dup (p.Val2809fs) rs1580693467
NM_000038.6(APC):c.8430dup (p.Asn2811Ter)
NM_000038.6(APC):c.8435del (p.Asn2812fs) rs1766745307
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
NM_000038.6(APC):c.933+2T>G rs1057517559
NM_000038.6(APC):c.933G>A (p.Lys311=)
NM_000038.6(APC):c.933G>C (p.Lys311Asn) rs1762431806

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