ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Clinical Genomics Laboratory, Washington University in St. Louis and "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: 11
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys) rs1374394802 0.00003
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) rs863225060
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)

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