ClinVar Miner

List of variants in gene PHYH studied for Phytanic acid storage disease

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_006214.4(PHYH):c.76-48T>C rs7916926 0.35507
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_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_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.717C>T (p.Tyr239=) rs142720126 0.00243
NM_006214.4(PHYH):c.*47G>A rs180770135 0.00192
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
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_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_006214.4(PHYH):c.792C>T (p.His264=) rs372047384 0.00034
NM_006214.4(PHYH):c.948T>C (p.Asn316=) rs143734330 0.00024
NM_006214.4(PHYH):c.*188A>C rs1307667521 0.00023
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_006214.4(PHYH):c.*25C>T rs760780410 0.00008
NM_006214.4(PHYH):c.76-9A>T rs368542152 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006214.4(PHYH):c.354C>G (p.Ile118Met) rs779724199 0.00006
NM_006214.4(PHYH):c.*417A>G rs1302015884 0.00005
NM_006214.4(PHYH):c.497-2A>G rs144169488 0.00004
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) rs770262329 0.00004
NM_006214.4(PHYH):c.375_376del (p.Glu126fs) rs1435262914 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_006214.4(PHYH):c.1009A>G (p.Asn337Asp) rs758218321 0.00001
NM_006214.4(PHYH):c.135-1G>C rs1057272016 0.00001
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln) rs886046830 0.00001
NM_006214.4(PHYH):c.506C>T (p.Thr169Met) rs1002598201 0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser) rs104894173 0.00001
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) rs750819521 0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln) rs104894174 0.00001
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.124C>T (p.Gln42Ter)
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr) rs886046831
NM_006214.4(PHYH):c.225del (p.Asp75fs)
NM_006214.4(PHYH):c.244C>T (p.Arg82Trp) rs145404396
NM_006214.4(PHYH):c.321G>T (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.343G>T (p.Glu115Ter)
NM_006214.4(PHYH):c.388del (p.Leu130fs)
NM_006214.4(PHYH):c.399C>G (p.Tyr133Ter)
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.415-1G>T
NM_006214.4(PHYH):c.426del (p.Lys141_Tyr142insTer)
NM_006214.4(PHYH):c.457del (p.Ala153fs)
NM_006214.4(PHYH):c.488del (p.Pro163fs)
NM_006214.4(PHYH):c.497-1G>A rs761927136
NM_006214.4(PHYH):c.502A>T (p.Lys168Ter)
NM_006214.4(PHYH):c.520dup (p.Leu174fs)
NM_006214.4(PHYH):c.527_528del (p.Gln176fs)
NM_006214.4(PHYH):c.549_550delinsT (p.Arg184fs)
NM_006214.4(PHYH):c.578G>A (p.Trp193Ter)
NM_006214.4(PHYH):c.621_623del (p.Val208del) rs755838466
NM_006214.4(PHYH):c.640A>T (p.Lys214Ter)
NM_006214.4(PHYH):c.679-11T>A rs886046828
NM_006214.4(PHYH):c.679-1dup rs767403321
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp) rs201936962
NM_006214.4(PHYH):c.684del (p.Val229fs)
NM_006214.4(PHYH):c.686_687del (p.Val229fs)
NM_006214.4(PHYH):c.739C>T (p.His247Tyr) rs1835475877
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006214.4(PHYH):c.811del (p.Thr271fs) rs2131634446
NM_006214.4(PHYH):c.828+4A>T rs1835471952
NM_006214.4(PHYH):c.846C>T (p.Phe282=) rs373839944
NM_006214.4(PHYH):c.896del (p.Asn299fs)
NM_006214.4(PHYH):c.93A>C (p.Ser31=) rs202198596
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769

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