ClinVar Miner

List of variants reported as likely benign for adult Refsum disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000288.4(PEX7):c.*115A>G
NM_000288.4(PEX7):c.*272A>G rs186705952
NM_000288.4(PEX7):c.*38G>A rs41288965
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_000288.4(PEX7):c.216T>C (p.Asp72=) rs1582732837
NM_000288.4(PEX7):c.315A>G (p.Gln105=) rs767901695
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.340-8G>A rs528317074
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.640C>T (p.Leu214=) rs1582759870
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997
NM_000288.4(PEX7):c.903+7G>T rs1227993935
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_006214.4(PHYH):c.*22T>G rs186628076
NM_006214.4(PHYH):c.*47G>A rs180770135
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769

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