ClinVar Miner

List of variants studied for adult Refsum disease by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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_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.356C>T (p.Thr119Met) rs34571629
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) rs143957922
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126

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