ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Genomics Laboratory, Washington University in St. Louis and "likely pathogenic" from any submitter

Minimum review status of the submission from Clinical Genomics Laboratory, Washington University in St. Louis: Collection method of the submission from Clinical Genomics Laboratory, Washington University in St. Louis:
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_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279

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