ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences and "pathogenic" from any submitter

Minimum review status of the submission from Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences: Collection method of the submission from Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) rs1315541036
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) rs1378590183
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) rs121912456
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)

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