ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and "pathogenic" from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454

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