ClinVar Miner

List of variants studied for peroxisomal disease by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002979.5(SCP2):c.572A>G (p.His191Arg) rs372168791 0.00001
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661

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