ClinVar Miner

List of variants in gene PHYH reported as benign for adult Refsum disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_006214.4(PHYH):c.*189del rs3839912
NM_006214.4(PHYH):c.*65G>A rs11133
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169

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