ClinVar Miner

List of variants studied for adult Refsum disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_006214.4(PHYH):c.135-2A>G rs201578674

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