ClinVar Miner

List of variants studied for peroxisomal disease by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) rs2104803395
NM_004035.7(ACOX1):c.320del (p.Phe107fs) rs2065875711

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