ClinVar Miner

List of variants studied for Phytanic acid storage disease by Illumina Laboratory Services, Illumina

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Total variants: 51
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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.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.*47G>A rs180770135 0.00192
NM_000288.3(PEX7):c.-77T>C rs1321472 0.00160
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
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_000288.3(PEX7):c.-91G>A rs772358439 0.00013
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.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_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.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.*257_*258insAGT rs1801001
NM_000288.4(PEX7):c.*305_*310del rs886061123
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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