ClinVar Miner

List of variants in gene HSD17B4 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1767+57C>T rs2636961 0.62409
NM_000414.4(HSD17B4):c.350-283G>A rs460274 0.62375
NM_000414.4(HSD17B4):c.1437+200G>A rs32664 0.62273
NM_000414.4(HSD17B4):c.1261+281G>A rs2636968 0.62251
NM_000414.4(HSD17B4):c.280+261A>T rs2459726 0.60024
NM_000414.4(HSD17B4):c.869-312A>C rs422297 0.59348
NM_000414.4(HSD17B4):c.715-194C>T rs2546210 0.55656
NM_000414.4(HSD17B4):c.434+120A>G rs463513 0.51367
NM_000414.4(HSD17B4):c.59-178G>A rs32651 0.51022
NM_000414.4(HSD17B4):c.1437+150G>A rs32663 0.44359
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.281-88C>T rs2259347 0.38905
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.113-205T>C rs2451816 0.36225
NM_000414.4(HSD17B4):c.1261+46C>T rs460945 0.28684
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.1573+247G>A rs1155777 0.26872
NM_000414.4(HSD17B4):c.714+73G>C rs12653702 0.16857
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_000414.4(HSD17B4):c.1437+306T>A rs68024523 0.13686
NM_000414.4(HSD17B4):c.1334-229A>T rs73249978 0.12105
NM_000414.4(HSD17B4):c.1334-205T>C rs56349852 0.12101
NM_000414.4(HSD17B4):c.1680+186C>T rs11746780 0.11064
NM_000414.4(HSD17B4):c.1681-93T>C rs73251672 0.10039
NM_000414.4(HSD17B4):c.740-291T>A rs79701262 0.09845
NM_000414.4(HSD17B4):c.281-87G>A rs13152959 0.09522
NM_000414.4(HSD17B4):c.2122-34C>T rs28943593 0.09221
NM_000414.4(HSD17B4):c.1768-264C>T rs80248925 0.09182
NM_000414.4(HSD17B4):c.2122-52T>G rs33926345 0.06764
NM_000414.4(HSD17B4):c.1993+164G>T rs2636963 0.06648
NM_000414.4(HSD17B4):c.*260A>G rs28943596 0.05395
NM_000414.4(HSD17B4):c.1855-82T>A rs34554885 0.04652
NM_000414.4(HSD17B4):c.868+149A>G rs34480380 0.04402
NM_000414.4(HSD17B4):c.739+23T>C rs6895345 0.04079
NM_000414.4(HSD17B4):c.1333+139A>T rs34544399 0.04071
NM_000414.4(HSD17B4):c.622+261A>G rs11241506 0.04058
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_000414.4(HSD17B4):c.715-158T>A rs6894991 0.03507
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_000414.4(HSD17B4):c.1574-185T>G rs2678073 0.02657
NM_000414.4(HSD17B4):c.973-337C>A rs17453513 0.02559
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000414.4(HSD17B4):c.349+39T>C rs2678069 0.02259
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.59-33C>G rs2678083 0.02088
NM_000414.4(HSD17B4):c.58+278C>G rs11949545 0.01901
NM_000414.4(HSD17B4):c.2121+266T>A rs74872780 0.01881
NM_000414.4(HSD17B4):c.1573+95G>C rs116072091 0.01371
NM_000414.4(HSD17B4):c.349+123A>T rs34061771 0.01260
NM_000414.4(HSD17B4):c.113-53C>T rs77647258 0.01206
NC_000005.10:g.119542370C>T rs145462554 0.01139
NM_000414.4(HSD17B4):c.1334-131C>T rs35764784 0.00930
NM_000414.4(HSD17B4):c.350-122G>A rs35717907 0.00807
NM_000414.4(HSD17B4):c.740-16T>G rs35416500 0.00789
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_000414.4(HSD17B4):c.868+207A>G rs73249955 0.00746
NM_000414.4(HSD17B4):c.350-94A>G rs35150552 0.00741
NM_000414.4(HSD17B4):c.349+91G>T rs35331622 0.00739
NC_000005.10:g.119452352G>A rs34212912 0.00709
NM_000414.4(HSD17B4):c.1994-23T>C rs75932694 0.00701
NM_000414.4(HSD17B4):c.2122-84G>A rs115238284 0.00697
NM_000414.4(HSD17B4):c.1438-308T>C rs147203499 0.00611
NM_000414.4(HSD17B4):c.869-265C>T rs144602828 0.00608
NM_000414.4(HSD17B4):c.1438-220A>T rs74388378 0.00486
NM_000414.4(HSD17B4):c.1855-43A>G rs10036783 0.00460
NM_000414.4(HSD17B4):c.1994-290T>C rs147446291 0.00442
NM_000414.4(HSD17B4):c.112+202G>A rs141662342 0.00411
NM_000414.4(HSD17B4):c.435-302A>G rs142793620 0.00411
NM_000414.4(HSD17B4):c.1573+240C>A rs141688212 0.00402
NM_000414.4(HSD17B4):c.1680+95T>A rs140865769 0.00401
NM_000414.4(HSD17B4):c.1994-26C>T rs150637104 0.00400
NM_000414.4(HSD17B4):c.868+203T>C rs144312231 0.00376
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.1262-172G>A rs140320013 0.00331
NM_000414.4(HSD17B4):c.349+151_349+154del rs369361680 0.00326
NM_000414.4(HSD17B4):c.973-172C>T rs145441350 0.00319
NM_000414.4(HSD17B4):c.1333+140C>T rs144232278 0.00307
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.58+105G>A rs78611678 0.00258
NM_000414.4(HSD17B4):c.1333+238A>G rs72563705 0.00247
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_000414.4(HSD17B4):c.220+26A>G rs183348210 0.00173
NM_000414.4(HSD17B4):c.349+21C>T rs185080185 0.00129
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_000414.4(HSD17B4):c.623-44A>G rs199857330 0.00121
NM_000414.4(HSD17B4):c.2122-42C>T rs200675328 0.00101
NM_000414.4(HSD17B4):c.112+50A>C rs35513863 0.00076
NM_000414.4(HSD17B4):c.-16G>T rs201823783 0.00063
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val) rs145728297 0.00036
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val) rs137946207 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000414.4(HSD17B4):c.1503+12T>G rs111239597 0.00033
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880 0.00030
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His) rs35281104 0.00029
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
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.1437+25A>C rs181609312 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.1204G>A (p.Ala402Thr) rs780430704 0.00013
NM_000414.4(HSD17B4):c.58+118G>A rs565765389 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.1317A>G (p.Val439=) rs771922933 0.00011
NM_000414.4(HSD17B4):c.1398T>G (p.Ser466=) rs746787900 0.00010
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.1855-29T>C rs187555406 0.00009
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000414.4(HSD17B4):c.2041A>G (p.Lys681Glu) rs139348491 0.00006
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915 0.00006
NM_000414.4(HSD17B4):c.622+5G>A rs536487449 0.00006
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000414.4(HSD17B4):c.112+8G>A rs770343200 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000414.4(HSD17B4):c.1216C>T (p.His406Tyr) rs371585154 0.00004
NM_000414.4(HSD17B4):c.1864C>T (p.Leu622Phe) rs34407657 0.00004
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 0.00004
NM_000414.4(HSD17B4):c.357C>A (p.Ile119=) rs374169186 0.00004
NM_000414.4(HSD17B4):c.*10T>G rs1216042672 0.00003
NM_000414.4(HSD17B4):c.112+15T>G rs763381588 0.00003
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875 0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.1855-8G>A rs369600555 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.766A>G (p.Ile256Val) rs768345875 0.00003
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00003
NM_000414.4(HSD17B4):c.99A>G (p.Gly33=) rs749165759 0.00003
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile) rs747214551 0.00002
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp) rs780820166 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.1857C>T (p.Gly619=) rs368565759 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NM_000414.4(HSD17B4):c.862A>G (p.Ile288Val) rs549278500 0.00002
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000414.4(HSD17B4):c.1105T>C (p.Ser369Pro) rs781084978 0.00001
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=) rs1485011447 0.00001
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000414.4(HSD17B4):c.1333+22T>C rs185098030 0.00001
NM_000414.4(HSD17B4):c.1361T>C (p.Ile454Thr) rs753362442 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.15G>A (p.Leu5=) rs969042234 0.00001
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile) rs375339818 0.00001
NM_000414.4(HSD17B4):c.1897C>T (p.Arg633Cys) rs767299480 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.2081A>G (p.Asp694Gly) rs1561494635 0.00001
NM_000414.4(HSD17B4):c.2138G>A (p.Arg713Lys) rs149776885 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.374G>A (p.Arg125Gln) rs781172854 0.00001
NM_000414.4(HSD17B4):c.481C>G (p.Gln161Glu) rs747162503 0.00001
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310 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.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.751C>T (p.Arg251Trp) rs771780974 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000414.4(HSD17B4):c.782A>C (p.Asn261Thr) rs763121959 0.00001
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228 0.00001
NM_000414.4(HSD17B4):c.932A>G (p.Asn311Ser) rs200867795 0.00001
NM_000414.4(HSD17B4):c.961A>G (p.Thr321Ala) rs773233283 0.00001
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.1020G>A (p.Thr340=)
NM_000414.4(HSD17B4):c.1035del (p.Met346fs) rs2126780815
NM_000414.4(HSD17B4):c.1122G>A (p.Leu374=)
NM_000414.4(HSD17B4):c.113-2032_113-2031del rs564038732
NM_000414.4(HSD17B4):c.113-2467A>G rs439954
NM_000414.4(HSD17B4):c.113-69CA[8] rs10601221
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg) rs1006852881
NM_000414.4(HSD17B4):c.1133G>A (p.Gly378Glu) rs1561463583
NM_000414.4(HSD17B4):c.1145G>A (p.Gly382Asp) rs972447861
NM_000414.4(HSD17B4):c.1160T>C (p.Met387Thr)
NM_000414.4(HSD17B4):c.1167A>T (p.Gly389=) rs1340926346
NM_000414.4(HSD17B4):c.1209+68_1209+72del rs146145595
NM_000414.4(HSD17B4):c.1289C>A (p.Ala430Asp) rs1282621174
NM_000414.4(HSD17B4):c.1301A>G (p.Asp434Gly) rs886042516
NM_000414.4(HSD17B4):c.1334-350C>T rs32662
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.1432G>A (p.Val478Ile) rs772553851
NM_000414.4(HSD17B4):c.1438-1G>A rs1554067009
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1484A>G (p.Asp495Gly) rs755720085
NM_000414.4(HSD17B4):c.1573+112del rs146163821
NM_000414.4(HSD17B4):c.1574-193_1574-192dup rs748728829
NM_000414.4(HSD17B4):c.1585C>T (p.Pro529Ser) rs1561485692
NM_000414.4(HSD17B4):c.1604_1606delinsTTT (p.Cys535_Thr536delinsPheSer) rs2126876332
NM_000414.4(HSD17B4):c.1613G>A (p.Gly538Glu) rs1554068277
NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)
NM_000414.4(HSD17B4):c.1627C>T (p.Arg543Cys) rs775326908
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1680+272_1680+273insGTATATATATAT rs6149207
NM_000414.4(HSD17B4):c.1680+272_1680+273insGTATATATATATAT rs1554068324
NM_000414.4(HSD17B4):c.1696_1702delinsAA (p.Pro566fs) rs886043708
NM_000414.4(HSD17B4):c.172G>T (p.Val58Phe) rs2126682652
NM_000414.4(HSD17B4):c.1768-6_1768-4del rs755128532
NM_000414.4(HSD17B4):c.1845A>C (p.Thr615=) rs759611831
NM_000414.4(HSD17B4):c.1855-50A>T rs34072936
NM_000414.4(HSD17B4):c.1855-9_1855-7del rs1440146478
NM_000414.4(HSD17B4):c.186AAG[1] (p.Arg65del) rs770940142
NM_000414.4(HSD17B4):c.1900C>T (p.Arg634Cys)
NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg)
NM_000414.4(HSD17B4):c.1971C>T (p.Gly657=) rs776519991
NM_000414.4(HSD17B4):c.1972G>A (p.Gly658Arg)
NM_000414.4(HSD17B4):c.1993+163_1993+164insT rs59962115
NM_000414.4(HSD17B4):c.1993+164_1993+165del rs34403323
NM_000414.4(HSD17B4):c.1993+164_1993+165insT rs1554069007
NM_000414.4(HSD17B4):c.1993+164_1993+165insTGT rs1554069007
NM_000414.4(HSD17B4):c.1993+164_1993+167del rs147060621
NM_000414.4(HSD17B4):c.1993+164_1993+169del rs1389038282
NM_000414.4(HSD17B4):c.1993+165GT[15] rs57579065
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.2122-182dup rs147689714
NM_000414.4(HSD17B4):c.2122-57del rs377089667
NM_000414.4(HSD17B4):c.2146G>T (p.Ala716Ser)
NM_000414.4(HSD17B4):c.2179_2180del (p.Gln727fs) rs1057519212
NM_000414.4(HSD17B4):c.2179_2183delinsAAA (p.Gln727fs) rs1057519420
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.271G>A (p.Gly91Arg) rs1561440976
NM_000414.4(HSD17B4):c.280+236C>T rs10078097
NM_000414.4(HSD17B4):c.280G>T (p.Asp94Tyr) rs1748381199
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.301G>C (p.Gly101Arg) rs886042726
NM_000414.4(HSD17B4):c.302+1G>A rs2126689875
NM_000414.4(HSD17B4):c.335G>C (p.Ser112Thr)
NM_000414.4(HSD17B4):c.346T>C (p.Trp116Arg) rs1748532789
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) rs786205574
NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp)
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.434+1G>C rs2126696991
NM_000414.4(HSD17B4):c.435-308G>A rs148238822
NM_000414.4(HSD17B4):c.458C>T (p.Ser153Leu) rs2126702555
NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)
NM_000414.4(HSD17B4):c.557A>T (p.Asn186Ile) rs1339819940
NM_000414.4(HSD17B4):c.58+185G>A
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
NM_000414.4(HSD17B4):c.598A>G (p.Met200Val)
NM_000414.4(HSD17B4):c.622+111A>G rs73246563
NM_000414.4(HSD17B4):c.622+253del rs202023697
NM_000414.4(HSD17B4):c.623-3C>T rs2126739939
NM_000414.4(HSD17B4):c.628G>T (p.Val210Leu)
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.650A>T (p.Tyr217Phe) rs387906825
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.694G>A (p.Glu232Lys)
NM_000414.4(HSD17B4):c.739+7C>G rs967006259
NM_000414.4(HSD17B4):c.740-250C>T rs138582862
NM_000414.4(HSD17B4):c.796C>T (p.Pro266Ser) rs146555135
NM_000414.4(HSD17B4):c.803C>T (p.Ala268Val) rs1561458037
NM_000414.4(HSD17B4):c.904del (p.Lys301_Ile302insTer) rs1561460929
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+55_972+66del rs200594336
NM_000414.4(HSD17B4):c.973G>A (p.Ala325Thr)
NM_000414.4(HSD17B4):c.973G>T (p.Ala325Ser)
NM_000414.4(HSD17B4):c.977G>C (p.Gly326Ala) rs771498011

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