ClinVar Miner

List of variants reported as likely pathogenic for adult Refsum disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>C rs267608254
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178

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