ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GenomeConnect - Simons Searchlight and "likely pathogenic" from any submitter

Minimum review status of the submission from GenomeConnect - Simons Searchlight: Collection method of the submission from GenomeConnect - Simons Searchlight:
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_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer) rs1594131663
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter) rs1555379968
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) rs2018124491

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