ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_006214.4(PHYH):c.*65G>A rs11133 0.27698
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_006214.4(PHYH):c.678+15C>T rs140995522 0.00717
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser) rs7901902 0.00603
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501 0.00371
NM_006214.4(PHYH):c.*22T>G rs186628076 0.00370
NM_006214.4(PHYH):c.*47G>A rs180770135 0.00192
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_000288.3(PEX7):c.-77T>C rs1321472 0.00160
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) rs143957922 0.00124
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308 0.00106
NM_006214.4(PHYH):c.829-3C>A rs116930123 0.00093
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_006214.4(PHYH):c.792C>T (p.His264=) rs372047384 0.00034
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_006214.4(PHYH):c.948T>C (p.Asn316=) rs143734330 0.00024
NM_006214.4(PHYH):c.*188A>C rs1307667521 0.00023
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_006214.4(PHYH):c.581C>T (p.Thr194Met) rs141554572 0.00019
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258 0.00015
NM_000288.3(PEX7):c.-91G>A rs772358439 0.00013
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_006214.4(PHYH):c.*25C>T rs760780410 0.00008
NM_006214.4(PHYH):c.76-9A>T rs368542152 0.00007
NM_000288.4(PEX7):c.*115A>G rs41288967 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_006214.4(PHYH):c.354C>G (p.Ile118Met) rs779724199 0.00006
NM_006214.4(PHYH):c.*417A>G rs1302015884 0.00005
NM_000288.4(PEX7):c.804-5C>T rs369653173 0.00004
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072 0.00004
NM_000288.4(PEX7):c.*223T>A rs774681133 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr) rs751660253 0.00003
NM_006214.4(PHYH):c.83A>G (p.His28Arg) rs778011598 0.00002
NM_000288.4(PEX7):c.-28G>A rs376808803 0.00001
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) rs1219430310 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421 0.00001
NM_000288.4(PEX7):c.748-10T>C rs886061122 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp) rs758218321 0.00001
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln) rs886046830 0.00001
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) rs750819521 0.00001
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.4(PEX7):c.*124A>G rs112796869
NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
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.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T rs991168664
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000288.4(PEX7):c.-69C>A rs528948146
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
NM_006214.3(PHYH):c.-78G>T rs886046832
NM_006214.4(PHYH):c.*189del rs3839912
NM_006214.4(PHYH):c.*253G>T rs550905616
NM_006214.4(PHYH):c.*434A>G rs1835323896
NM_006214.4(PHYH):c.*499C>T rs953706106
NM_006214.4(PHYH):c.-20G>C rs546291238
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr) rs886046831
NM_006214.4(PHYH):c.321G>T (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.679-11T>A rs886046828
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp) rs201936962
NM_006214.4(PHYH):c.739C>T (p.His247Tyr) rs1835475877
NM_006214.4(PHYH):c.828+4A>T rs1835471952
NM_006214.4(PHYH):c.93A>C (p.Ser31=) rs202198596
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769

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