ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Biochemistry Laboratory, Health Services Laboratory and "uncertain significance" from any submitter

Minimum review status of the submission from Clinical Biochemistry Laboratory, Health Services Laboratory: Collection method of the submission from Clinical Biochemistry Laboratory, Health Services Laboratory:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791

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