ClinVar Miner

List of variants reported by Molecular Oncology Laboratory, Hospital Clínico San Carlos

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn) rs145236923 0.00129
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_004655.4(AXIN2):c.203G>A (p.Arg68Gln) rs138056036 0.00020
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00019
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_000038.6(APC):c.1966C>G (p.Leu656Val) rs577466163 0.00003
NM_002691.4(POLD1):c.520C>T (p.Arg174Trp) rs749334182 0.00003
NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser) rs139309757 0.00002
NM_002691.4(POLD1):c.1465G>A (p.Val489Met) rs753244422 0.00001
NM_004655.4(AXIN2):c.2141G>A (p.Arg714Gln) rs762872515 0.00001
NM_006231.4(POLE):c.198G>A (p.Met66Ile) rs764962999 0.00001
NM_000038.6(APC):c.1240C>G (p.Arg414Gly) rs137854567
NM_000038.6(APC):c.147_150del (p.Lys49fs) rs587781694
NM_000038.6(APC):c.266C>G (p.Ser89Ter) rs876658846
NM_000038.6(APC):c.8501A>C (p.His2834Pro) rs1561623862
NM_001048174.2(MUTYH):c.1426_1433delinsCCAACAGCCCA (p.Thr476_Met478delinsProThrAlaGln) rs1557451154
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly) rs587782885
NM_006231.4(POLE):c.141del (p.Phe48fs) rs761329565

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