ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics: Collection method of the submission from Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics:
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_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000187.4(HGD):c.536T>G (p.Ile179Ser) rs1031569954 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000047.3(ARSL):c.1289+1G>A rs2147349066
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg) rs1940645842
NM_000187.4(HGD):c.127C>G (p.Gln43Glu) rs1243059404
NM_000187.4(HGD):c.131T>C (p.Leu44Pro) rs1708095030
NM_000187.4(HGD):c.665C>A (p.Ala222Asp) rs1576294110
NM_000187.4(HGD):c.753C>T (p.Gly251=) rs1357020990
NM_000282.4(PCCA):c.1899+2_1899+3insCT rs2081058900
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro) rs1925418549

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