ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from PreventionGenetics, part of Exact Sciences and "likely benign" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_019112.4(ABCA7):c.4208del (p.Leu1403fs) rs538591288 0.00076
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter) rs754242209 0.00009
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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