ClinVar Miner

Variants with conflicting interpretations "likely benign" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00182
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00057
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00025
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941 0.00009
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00005
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_002485.5(NBN):c.2070+4G>A rs876660950 0.00002

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