ClinVar Miner

List of variants studied for peroxisomal disease by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501 0.00371
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126 0.00243
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) rs143957922 0.00124
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308 0.00106

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