ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Provincial Medical Genetics Program of British Columbia, University of British Columbia and "likely pathogenic" from any submitter

Minimum review status of the submission from Provincial Medical Genetics Program of British Columbia, University of British Columbia: Collection method of the submission from Provincial Medical Genetics Program of British Columbia, University of British Columbia:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000140.5(FECH):c.854A>G (p.Gln285Arg) rs370708663 0.00001
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738

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