ClinVar Miner

Variants with conflicting interpretations "likely benign" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "benign" 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: 19
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00185
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00182
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00086
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_177438.3(DICER1):c.3428T>C (p.Leu1143Pro) rs139786661 0.00070
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00057
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00027
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His) rs80359150 0.00002
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117 0.00001
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001

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