ClinVar Miner

List of variants in gene HSD17B4 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.973-337C>A rs17453513 0.02559
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.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.-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.58+105G>A rs78611678 0.00258
NM_000414.4(HSD17B4):c.1333+238A>G rs72563705 0.00247
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.1503+12T>G rs111239597 0.00033
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286 0.00019
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.58+118G>A rs565765389 0.00013
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.1855-29T>C rs187555406 0.00009
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.1131C>T (p.Phe377=) rs200347945 0.00004
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.1278A>T (p.Glu426Asp) rs780820166 0.00002
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=) rs1485011447 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.1625G>A (p.Arg542Lys) rs546653967 0.00001
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310 0.00001
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=) rs770261826 0.00001
NM_000414.4(HSD17B4):c.1122G>A (p.Leu374=)
NM_000414.4(HSD17B4):c.113-2032_113-2031del rs564038732
NM_000414.4(HSD17B4):c.1209+68_1209+72del rs146145595
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1680+272_1680+273insGTATATATATATAT rs1554068324
NM_000414.4(HSD17B4):c.1855-50A>T rs34072936
NM_000414.4(HSD17B4):c.1971C>T (p.Gly657=) rs776519991
NM_000414.4(HSD17B4):c.1993+164_1993+169del rs1389038282
NM_000414.4(HSD17B4):c.435-308G>A rs148238822
NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)
NM_000414.4(HSD17B4):c.622+111A>G rs73246563
NM_000414.4(HSD17B4):c.623-3C>T rs2126739939
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.740-250C>T rs138582862
NM_000414.4(HSD17B4):c.972+55_972+66del rs200594336

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.