ClinVar Miner

List of variants studied for adult Refsum disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000288.3(PEX7):c.-77T>C rs1321472
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.3(PEX7):c.-91G>A rs772358439
NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
NM_000288.4(PEX7):c.*272A>G rs186705952
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*305_*310del rs886061123
NM_000288.4(PEX7):c.*306T>G rs1050803
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.*38G>A rs41288965
NM_000288.4(PEX7):c.-28G>A rs376808803
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-56C>T rs73777751
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421
NM_000288.4(PEX7):c.748-10T>C rs886061122
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210
NM_001323082.1(PHYH):c.-78G>T rs886046832
NM_006214.3(PHYH):c.415-11delT rs140309981
NM_006214.4(PHYH):c.*189del rs3839912
NM_006214.4(PHYH):c.*22T>G rs186628076
NM_006214.4(PHYH):c.*47G>A rs180770135
NM_006214.4(PHYH):c.*65G>A rs11133
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.135-2A>G rs201578674
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr) rs886046831
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.636A>G (p.Thr212=) rs473407
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser) rs7901902
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_006214.4(PHYH):c.679-11T>A rs886046828
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) rs750819521
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.85C>T (p.Pro29Ser) rs28938169
NM_006214.4(PHYH):c.93A>C (p.Ser31=) rs202198596
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769

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