ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics and "uncertain significance" 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: 9
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp) rs1591122325
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile) rs121918050
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_021830.5(TWNK):c.1272C>G (p.Phe424Leu) rs773918715

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