ClinVar Miner

List of variants in gene PHYH reported as uncertain significance for adult Refsum disease

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_001323082.1(PHYH):c.-78G>T rs886046832
NM_006214.4(PHYH):c.*22T>G rs186628076
NM_006214.4(PHYH):c.*47G>A rs180770135
NM_006214.4(PHYH):c.-20G>C rs546291238
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp) rs758218321
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr) rs886046831
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup) rs1554785878
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln) rs886046830
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.321G>T (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr) rs751660253
NM_006214.4(PHYH):c.581C>T (p.Thr194Met) rs141554572
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) rs143957922
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258
NM_006214.4(PHYH):c.621_623del (p.Val208del) rs755838466
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser) rs7901902
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006214.4(PHYH):c.679-11T>A rs886046828
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) rs750819521
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006214.4(PHYH):c.76-9A>T rs368542152
NM_006214.4(PHYH):c.792C>T (p.His264=) rs372047384
NM_006214.4(PHYH):c.829-3C>A rs116930123
NM_006214.4(PHYH):c.93A>C (p.Ser31=) rs202198596
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769

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