ClinVar Miner

List of variants studied for Zellweger spectrum disorders by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465 0.00007
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) rs553001596

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