ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Molecular Genetics Laboratory, London Health Sciences Centre and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Genetics Laboratory, London Health Sciences Centre: Collection method of the submission from Molecular Genetics Laboratory, London Health Sciences Centre:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_018972.4(GDAP1):c.579+1G>A rs864622501

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