ClinVar Miner

List of variants in gene APC reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) rs587781546 0.00005
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732 0.00004
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro) rs375586273 0.00004
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000038.6(APC):c.2240C>T (p.Ser747Leu) rs773020689 0.00002
NM_000038.6(APC):c.262C>T (p.Arg88Trp) rs746592911 0.00001
NM_000038.6(APC):c.2768G>C (p.Arg923Thr) rs1057519194 0.00001
NM_000038.6(APC):c.2958T>C (p.Tyr986=) rs746581330 0.00001
NM_000038.6(APC):c.365G>T (p.Gly122Val) rs755660899 0.00001
NM_000038.6(APC):c.5302A>G (p.Lys1768Glu) rs199630012 0.00001
NM_000038.6(APC):c.6196A>G (p.Arg2066Gly) rs786204043 0.00001
NM_000038.6(APC):c.688C>T (p.Arg230Cys) rs587779805 0.00001
NM_000038.6(APC):c.6974G>A (p.Gly2325Asp) rs1554087886 0.00001
NM_000038.6(APC):c.8399C>T (p.Ala2800Val) rs141024271 0.00001
NM_000038.6(APC):c.1333C>G (p.Gln445Glu) rs876658802
NM_000038.6(APC):c.1688T>C (p.Leu563Ser) rs1580574619
NM_000038.6(APC):c.1813G>A (p.Asp605Asn) rs1060503278
NM_000038.6(APC):c.2819C>T (p.Ser940Leu) rs544709767
NM_000038.6(APC):c.2834_2835delinsTT (p.Arg945Ile) rs786204162
NM_000038.6(APC):c.3084T>G (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.3193C>A (p.Gln1065Lys) rs1330361513
NM_000038.6(APC):c.423-33_423-17del
NM_000038.6(APC):c.4538A>C (p.Glu1513Ala)
NM_000038.6(APC):c.4898C>A (p.Thr1633Lys) rs765215625
NM_000038.6(APC):c.4940C>A (p.Thr1647Lys)
NM_000038.6(APC):c.5490T>G (p.Asn1830Lys) rs1554086766
NM_000038.6(APC):c.5573G>T (p.Arg1858Leu) rs369831474
NM_000038.6(APC):c.5628G>T (p.Arg1876Ser) rs1064794942
NM_000038.6(APC):c.608A>G (p.Gln203Arg) rs1554072626
NM_000038.6(APC):c.6285T>C (p.Asp2095=) rs1580669392
NM_000038.6(APC):c.6386C>T (p.Ser2129Leu) rs587782301
NM_000038.6(APC):c.7696A>C (p.Arg2566=) rs1060504883
NM_000038.6(APC):c.7892C>T (p.Ser2631Phe) rs730881269
NM_001127511.3(APC):c.-140C>G rs775297664

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