ClinVar Miner

List of variants in gene HSD17B4 studied for Perrault syndrome 1

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 129
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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.2176C>G (p.Leu726Val) rs145728297 0.00036
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.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.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.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.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000414.4(HSD17B4):c.1767+4T>C rs747282423 0.00004
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 0.00004
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro) rs771009588 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.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588 0.00002
NM_000414.4(HSD17B4):c.*123A>G rs956800775 0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 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.1333+1G>C rs1369305726 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.1596T>C (p.His532=) rs758045328 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.1876T>G (p.Phe626Val) rs1385683079 0.00001
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr) rs368915056 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.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228 0.00001
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.1001del (p.Pro334fs)
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys) rs2126780758
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) rs764300456
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
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.1660_1661del (p.Ser554fs)
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) rs1239645507
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=) rs142527052
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)
NM_000414.4(HSD17B4):c.290del (p.Val97fs)
NM_000414.4(HSD17B4):c.349+4A>G rs2126690458
NM_000414.4(HSD17B4):c.358del (p.His120fs)
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) rs786205574
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met) rs1748692405
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) rs1085307072
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.430G>A (p.Gly144Arg)
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His) rs2126702600
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe) rs1307944675
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe) rs1749881286
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln) rs762613990
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) rs2126740316
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.74A>G (p.Tyr25Cys) rs2126610386
NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val) rs1162207835
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro) rs1750354958
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396

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