ClinVar Miner

List of variants in gene APC reported as uncertain significance by ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1105TTG[1] (p.Leu370del) rs1580529312
NM_000038.6(APC):c.1627G>T (p.Val543Phe) rs1554082080
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3083G>A (p.Ser1028Asn) rs1114167617
NM_000038.6(APC):c.3084T>G (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.32dup (p.Gln12fs) rs1561444620
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.5761G>A (p.Gly1921Ser) rs1060503324
NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del) rs1057517569
NM_000038.6(APC):c.754A>G (p.Thr252Ala) rs1580454642
NM_000038.6(APC):c.8514C>A (p.Tyr2838Ter) rs876660375
NM_000038.6(APC):c.8530T>G (p.Ter2844Glu) rs1766772190

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