ClinVar Miner

List of variants reported as 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: 7
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NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
NM_000288.4(PEX7):c.*306T>G rs1050803
NM_000288.4(PEX7):c.-56C>T rs73777751
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

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