ClinVar Miner

List of variants reported as likely benign for adult Refsum disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169

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