ClinVar Miner

List of variants in gene HSD17B4 studied for Bifunctional peroxisomal enzyme deficiency

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Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1767+57C>T rs2636961 0.62409
NM_000414.4(HSD17B4):c.434+120A>G rs463513 0.51367
NM_000414.4(HSD17B4):c.1261+47A>G rs455949 0.44330
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000414.4(HSD17B4):c.434+44T>C rs457106 0.36386
NM_000414.4(HSD17B4):c.1210-78T>C rs257969 0.27308
NM_000414.4(HSD17B4):c.1993+74G>C rs17145464 0.27235
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_000414.4(HSD17B4):c.2122-34C>T rs28943593 0.09221
NM_000414.4(HSD17B4):c.*260A>G rs28943596 0.05395
NM_000414.4(HSD17B4):c.739+23T>C rs6895345 0.04079
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000414.4(HSD17B4):c.-28C>T rs34353289 0.00334
NM_000414.4(HSD17B4):c.*278T>A rs149665666 0.00333
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000414.4(HSD17B4):c.*83T>G rs181310520 0.00199
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_000414.3(HSD17B4):c.-119C>G rs11739468 0.00087
NM_000414.4(HSD17B4):c.*135T>G rs185522709 0.00065
NM_000414.4(HSD17B4):c.*134C>T rs543194892 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880 0.00030
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000414.3(HSD17B4):c.-130C>T rs536737707 0.00020
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=) rs369449821 0.00019
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286 0.00019
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg) rs142889209 0.00013
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00011
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) rs149283499 0.00011
NM_000414.4(HSD17B4):c.112+11G>A rs775970480 0.00007
NM_000414.4(HSD17B4):c.622+5G>A rs536487449 0.00006
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro) rs199659543 0.00005
NM_000414.4(HSD17B4):c.113-2206T>C rs541081959 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
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.*235T>C rs553631151 0.00003
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346 0.00003
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=) rs370055428 0.00003
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875 0.00003
NM_000414.4(HSD17B4):c.1452A>G (p.Ile484Met) rs376158204 0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.1663A>G (p.Arg555Gly) rs561555159 0.00003
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro) rs771009588 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389 0.00003
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00003
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile) rs747214551 0.00002
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.1857C>T (p.Gly619=) rs368565759 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000414.4(HSD17B4):c.1881A>G (p.Val627=) rs201053163 0.00002
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588 0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=) rs762731834 0.00002
NC_000005.9:g.118829592G>T rs368744809 0.00001
NM_000414.4(HSD17B4):c.*123A>G rs956800775 0.00001
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=) rs778708979 0.00001
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235 0.00001
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=) rs764406724 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser) rs757297524 0.00001
NM_000414.4(HSD17B4):c.1574-1G>A rs755412738 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822 0.00001
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=) rs745478996 0.00001
NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val) rs1385683079 0.00001
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr) rs368915056 0.00001
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys) rs752858179 0.00001
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818 0.00001
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp) rs1456658488 0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_000414.4(HSD17B4):c.2122-2A>G rs1341761252 0.00001
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125 0.00001
NM_000414.4(HSD17B4):c.280+2T>C rs770772281 0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_000414.4(HSD17B4):c.571A>G (p.Thr191Ala) rs1397379413 0.00001
NM_000414.4(HSD17B4):c.58+121A>G rs775377217 0.00001
NM_000414.4(HSD17B4):c.58+123G>C rs762157656 0.00001
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=) rs770261826 0.00001
NM_000414.4(HSD17B4):c.614T>C (p.Met205Thr) rs761601392 0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228 0.00001
GRCh37/hg19 5q23.1(chr5:118811401-118814716)
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-75C>A rs26180
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys) rs2126780758
NM_000414.4(HSD17B4):c.1121del (p.Leu374fs) rs2126781231
NM_000414.4(HSD17B4):c.113-1G>T rs1224475289
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg) rs1006852881
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1210-7A>G rs1751214001
NM_000414.4(HSD17B4):c.1212_1261+2del rs1554065670
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs) rs2126790164
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter) rs1057516735
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1334-2A>T rs1554066421
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs) rs2126814260
NM_000414.4(HSD17B4):c.1414_1416del (p.Lys472del) rs1751942272
NM_000414.4(HSD17B4):c.1438-2A>C rs1057516273
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs) rs1057516859
NM_000414.4(HSD17B4):c.145_220+63del
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)
NM_000414.4(HSD17B4):c.1503+1G>A
NM_000414.4(HSD17B4):c.1504-2A>C rs1554068134
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg) rs1753477498
NM_000414.4(HSD17B4):c.1573+1G>A
NM_000414.4(HSD17B4):c.1574G>T (p.Gly525Val) rs1554068261
NM_000414.4(HSD17B4):c.1586C>T (p.Pro529Leu) rs1554068269
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg) rs1554068272
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)
NM_000414.4(HSD17B4):c.1636C>T (p.Gln546Ter)
NM_000414.4(HSD17B4):c.1681-1G>C
NM_000414.4(HSD17B4):c.1681G>C (p.Ala561Pro)
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) rs1239645507
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.1768-1G>A
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)
NM_000414.4(HSD17B4):c.178GAA[1] (p.Glu61del) rs1554062119
NM_000414.4(HSD17B4):c.1854+2T>C
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs) rs1057516312
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs) rs1057517152
NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)
NM_000414.4(HSD17B4):c.1984del (p.Ala662fs) rs2126896727
NM_000414.4(HSD17B4):c.1993+1G>A rs1580711803
NM_000414.4(HSD17B4):c.1993+2T>G rs1554068960
NM_000414.4(HSD17B4):c.1994-1G>A
NM_000414.4(HSD17B4):c.1994-1G>C
NM_000414.4(HSD17B4):c.1994-2A>G rs1554069592
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.2059del (p.Thr687fs)
NM_000414.4(HSD17B4):c.2071dup (p.Ser691fs)
NM_000414.4(HSD17B4):c.2072C>G (p.Ser691Ter)
NM_000414.4(HSD17B4):c.2121+1G>A
NM_000414.4(HSD17B4):c.2121+1G>C rs1554069610
NM_000414.4(HSD17B4):c.2122-9T>C rs573283226
NM_000414.4(HSD17B4):c.212_216del (p.Ala71fs)
NM_000414.4(HSD17B4):c.2130dup (p.Ser711Ter) rs1554070146
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys) rs1554062124
NM_000414.4(HSD17B4):c.220+2T>C rs1231357043
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His) rs1755036404
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
NM_000414.4(HSD17B4):c.221-1G>C rs1554062168
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.280+1_280+3del rs2126684546
NM_000414.4(HSD17B4):c.281-2A>G rs1554062343
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.302+3_302+6del rs863225438
NM_000414.4(HSD17B4):c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT rs2126689896
NM_000414.4(HSD17B4):c.303-1G>A
NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys)
NM_000414.4(HSD17B4):c.317G>C (p.Arg106Pro) rs25640
NM_000414.4(HSD17B4):c.349+1G>T rs1057516958
NM_000414.4(HSD17B4):c.350-1G>A
NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met) rs1748692405
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)
NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs) rs775832137
NM_000414.4(HSD17B4):c.435-2A>G
NM_000414.4(HSD17B4):c.435-2A>T rs1171426785
NM_000414.4(HSD17B4):c.523G>A (p.Ala175Thr) rs1554062814
NM_000414.4(HSD17B4):c.58+127_58+129del rs1394106982
NM_000414.4(HSD17B4):c.58+189G>C rs1554059562
NM_000414.4(HSD17B4):c.58+189del rs1554059560
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)
NM_000414.4(HSD17B4):c.59-1G>A
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs) rs1057516310
NM_000414.4(HSD17B4):c.623-1G>A rs1554064083
NM_000414.4(HSD17B4):c.623-2A>G
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.643C>T (p.Pro215Ser) rs552078818
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.661C>T (p.Leu221Phe) rs1554064092
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe) rs1749881286
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs) rs1057516750
NM_000414.4(HSD17B4):c.715-1G>A
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.725del (p.Gly242fs)
NM_000414.4(HSD17B4):c.739+1G>A rs1561456373
NM_000414.4(HSD17B4):c.739+2T>C
NM_000414.4(HSD17B4):c.739+2dup rs1554064396
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
NM_000414.4(HSD17B4):c.788del (p.Pro263fs) rs1561457987
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro) rs1750354958
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.869-4T>A rs1257077894
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter) rs1057516269
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.972+1G>A
NM_000414.4(HSD17B4):c.972+1del
NM_000414.4(HSD17B4):c.973-2A>C rs1057517118
NM_000414.4(HSD17B4):c.974_1209+1del rs1554065254

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