ClinVar Miner

Variants with conflicting interpretations "benign" from Genomic Research Center, Shahid Beheshti University of Medical Sciences and "uncertain significance" from any submitter

Minimum review status of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences: Collection method of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_018896.5(CACNA1G):c.3200G>A (p.Arg1067His) rs369751310 0.00002
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738

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