ClinVar Miner

List of variants studied for peroxisomal disease by Pars Genome Lab

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_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000033.4(ABCD1):c.1126del (p.Glu376fs)

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