ClinVar Miner

List of variants reported as uncertain significance for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome

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Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_000414.4(HSD17B4):c.1204G>A (p.Ala402Thr) rs780430704 0.00013
NM_000414.4(HSD17B4):c.1058C>T (p.Ala353Val) rs138560200 0.00012
NM_000414.4(HSD17B4):c.1262G>A (p.Gly421Glu) rs139500402 0.00011
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) rs149283499 0.00011
NM_000414.4(HSD17B4):c.628G>A (p.Val210Met) rs1017610439 0.00010
NM_000414.4(HSD17B4):c.1759C>G (p.Gln587Glu) rs138507337 0.00009
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00008
NM_000414.4(HSD17B4):c.303-11T>A rs767897278 0.00006
NM_000414.4(HSD17B4):c.622+5G>A rs536487449 0.00006
NM_000414.4(HSD17B4):c.1000C>G (p.Pro334Ala) rs143750360 0.00005
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042 0.00005
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro) rs199659543 0.00005
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 0.00004
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser) rs372914814 0.00004
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346 0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.766A>G (p.Ile256Val) rs768345875 0.00003
NM_000414.4(HSD17B4):c.815A>C (p.Asn272Thr) rs779675068 0.00003
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389 0.00003
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln) rs901553037 0.00002
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000414.4(HSD17B4):c.2181G>C (p.Gln727His) rs776945690 0.00002
NM_000414.4(HSD17B4):c.241A>G (p.Lys81Glu) rs1026521515 0.00002
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588 0.00002
NM_000414.4(HSD17B4):c.351T>A (p.Asp117Glu) rs200667890 0.00002
NM_000414.4(HSD17B4):c.353T>C (p.Ile118Thr) rs139427751 0.00002
NM_000414.4(HSD17B4):c.376G>A (p.Gly126Ser) rs769066826 0.00002
NM_000414.4(HSD17B4):c.1019C>T (p.Thr340Met) rs201568834 0.00001
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235 0.00001
NM_000414.4(HSD17B4):c.1436A>G (p.Lys479Arg) rs1318841272 0.00001
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser) rs757297524 0.00001
NM_000414.4(HSD17B4):c.160G>A (p.Ala54Thr) rs758207228 0.00001
NM_000414.4(HSD17B4):c.163G>A (p.Ala55Thr) rs780149071 0.00001
NM_000414.4(HSD17B4):c.1657G>A (p.Val553Met) rs149141475 0.00001
NM_000414.4(HSD17B4):c.1699G>A (p.Val567Ile) rs775795599 0.00001
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035 0.00001
NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile) rs375339818 0.00001
NM_000414.4(HSD17B4):c.1898G>A (p.Arg633His) rs754096002 0.00001
NM_000414.4(HSD17B4):c.1970G>A (p.Gly657Asp) rs141219265 0.00001
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys) rs752858179 0.00001
NM_000414.4(HSD17B4):c.2138G>A (p.Arg713Lys) rs149776885 0.00001
NM_000414.4(HSD17B4):c.2180A>G (p.Gln727Arg) rs766910805 0.00001
NM_000414.4(HSD17B4):c.220+3A>G rs759069970 0.00001
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125 0.00001
NM_000414.4(HSD17B4):c.782A>C (p.Asn261Thr) rs763121959 0.00001
NM_000414.4(HSD17B4):c.932A>G (p.Asn311Ser) rs200867795 0.00001
NC_000005.9:g.(?_118809583)_(118877689_?)dup
NC_000005.9:g.(?_118811381)_(118814736_?)del
NC_000005.9:g.(?_118877580)_(118877689_?)del
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser) rs143750360
NM_000414.4(HSD17B4):c.1037T>C (p.Met346Thr)
NM_000414.4(HSD17B4):c.1042G>A (p.Ala348Thr)
NM_000414.4(HSD17B4):c.1067A>G (p.Lys356Arg)
NM_000414.4(HSD17B4):c.1070A>T (p.Asp357Val)
NM_000414.4(HSD17B4):c.1078G>T (p.Asp360Tyr) rs2126781071
NM_000414.4(HSD17B4):c.1096G>A (p.Glu366Lys)
NM_000414.4(HSD17B4):c.1109A>T (p.Asp370Val)
NM_000414.4(HSD17B4):c.1136T>A (p.Val379Asp) rs1750957000
NM_000414.4(HSD17B4):c.1177G>A (p.Glu393Lys)
NM_000414.4(HSD17B4):c.1180A>G (p.Ile394Val)
NM_000414.4(HSD17B4):c.1181T>C (p.Ile394Thr)
NM_000414.4(HSD17B4):c.1189C>A (p.Leu397Ile)
NM_000414.4(HSD17B4):c.118G>T (p.Asp40Tyr) rs34959311
NM_000414.4(HSD17B4):c.1195A>G (p.Ile399Val)
NM_000414.4(HSD17B4):c.1209+5G>A rs749753383
NM_000414.4(HSD17B4):c.1209+5G>T
NM_000414.4(HSD17B4):c.1240T>C (p.Tyr414His)
NM_000414.4(HSD17B4):c.1271A>G (p.Lys424Arg) rs2126806471
NM_000414.4(HSD17B4):c.1289C>A (p.Ala430Asp) rs1282621174
NM_000414.4(HSD17B4):c.131A>T (p.Asp44Val) rs200063597
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe) rs768553274
NM_000414.4(HSD17B4):c.1352A>G (p.Lys451Arg)
NM_000414.4(HSD17B4):c.1354G>C (p.Glu452Gln)
NM_000414.4(HSD17B4):c.1361T>A (p.Ile454Lys)
NM_000414.4(HSD17B4):c.1366C>G (p.His456Asp)
NM_000414.4(HSD17B4):c.1370A>G (p.Asn457Ser)
NM_000414.4(HSD17B4):c.1388T>C (p.Leu463Pro) rs2126814342
NM_000414.4(HSD17B4):c.1424C>T (p.Ser475Leu)
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val) rs775297352
NM_000414.4(HSD17B4):c.1484A>T (p.Asp495Val) rs755720085
NM_000414.4(HSD17B4):c.1490C>A (p.Thr497Asn)
NM_000414.4(HSD17B4):c.1496T>G (p.Leu499Arg)
NM_000414.4(HSD17B4):c.1619C>A (p.Ser540Tyr)
NM_000414.4(HSD17B4):c.161C>G (p.Ala54Gly) rs141517981
NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)
NM_000414.4(HSD17B4):c.1655A>T (p.Asp552Val) rs1753560298
NM_000414.4(HSD17B4):c.1680G>C (p.Lys560Asn)
NM_000414.4(HSD17B4):c.1681G>T (p.Ala561Ser)
NM_000414.4(HSD17B4):c.1690_1691delinsCT (p.Ala564Leu)
NM_000414.4(HSD17B4):c.1724C>G (p.Thr575Ser)
NM_000414.4(HSD17B4):c.1767+5G>A rs1753684353
NM_000414.4(HSD17B4):c.1804T>C (p.Tyr602His)
NM_000414.4(HSD17B4):c.1805A>G (p.Tyr602Cys)
NM_000414.4(HSD17B4):c.1819C>T (p.Pro607Ser)
NM_000414.4(HSD17B4):c.1885G>C (p.Glu629Gln)
NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser) rs1294462098
NM_000414.4(HSD17B4):c.1935A>G (p.Lys645=)
NM_000414.4(HSD17B4):c.1945G>A (p.Val649Ile)
NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg)
NM_000414.4(HSD17B4):c.200G>A (p.Gly67Glu)
NM_000414.4(HSD17B4):c.2011G>C (p.Gly671Arg)
NM_000414.4(HSD17B4):c.2032G>A (p.Gly678Ser)
NM_000414.4(HSD17B4):c.2045G>A (p.Gly682Asp)
NM_000414.4(HSD17B4):c.2065A>G (p.Ile689Val)
NM_000414.4(HSD17B4):c.2075A>G (p.Asp692Gly) rs2126915869
NM_000414.4(HSD17B4):c.2106G>T (p.Lys702Asn)
NM_000414.4(HSD17B4):c.2112C>A (p.Asp704Glu)
NM_000414.4(HSD17B4):c.2127C>G (p.Phe709Leu) rs541911825
NM_000414.4(HSD17B4):c.2135G>A (p.Gly712Asp)
NM_000414.4(HSD17B4):c.2163G>A (p.Met721Ile) rs2126934715
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys) rs1554062124
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
NM_000414.4(HSD17B4):c.245T>C (p.Val82Ala)
NM_000414.4(HSD17B4):c.251A>G (p.Lys84Arg)
NM_000414.4(HSD17B4):c.272G>A (p.Gly91Glu)
NM_000414.4(HSD17B4):c.275G>T (p.Arg92Ile) rs754108630
NM_000414.4(HSD17B4):c.280+4A>G rs759020197
NM_000414.4(HSD17B4):c.280+4A>T
NM_000414.4(HSD17B4):c.280+5T>C rs2126684592
NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys)
NM_000414.4(HSD17B4):c.338A>C (p.Asp113Ala)
NM_000414.4(HSD17B4):c.361A>G (p.Arg121Gly) rs1455328824
NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp)
NM_000414.4(HSD17B4):c.434+5A>G
NM_000414.4(HSD17B4):c.442A>G (p.Met148Val) rs765174171
NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)
NM_000414.4(HSD17B4):c.491A>G (p.Tyr164Cys)
NM_000414.4(HSD17B4):c.529T>C (p.Ser177Pro)
NM_000414.4(HSD17B4):c.550A>G (p.Lys184Glu)
NM_000414.4(HSD17B4):c.59-3T>G
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
NM_000414.4(HSD17B4):c.596G>A (p.Arg199Gln)
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.658C>T (p.Pro220Ser)
NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly)
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln) rs762613990
NM_000414.4(HSD17B4):c.742C>G (p.Arg248Gly) rs969485098
NM_000414.4(HSD17B4):c.755C>T (p.Thr252Ile)
NM_000414.4(HSD17B4):c.761G>A (p.Gly254Glu)
NM_000414.4(HSD17B4):c.784C>G (p.His262Asp)
NM_000414.4(HSD17B4):c.793A>G (p.Thr265Ala)
NM_000414.4(HSD17B4):c.796C>T (p.Pro266Ser) rs146555135
NM_000414.4(HSD17B4):c.814A>G (p.Asn272Asp) rs2126758919
NM_000414.4(HSD17B4):c.842A>G (p.Asn281Ser) rs1750354718
NM_000414.4(HSD17B4):c.847A>T (p.Ser283Cys)
NM_000414.4(HSD17B4):c.854C>T (p.Pro285Leu)
NM_000414.4(HSD17B4):c.860G>A (p.Ser287Asn)
NM_000414.4(HSD17B4):c.922G>A (p.Val308Ile)
NM_000414.4(HSD17B4):c.925T>C (p.Ser309Pro)
NM_000414.4(HSD17B4):c.934C>T (p.His312Tyr)

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