ClinVar Miner

List of variants in gene HSD17B4 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP
NC_000005.10:g.119452457C>G
NM_000414.4(HSD17B4):c.*135T>G rs185522709
NM_000414.4(HSD17B4):c.*278T>A rs149665666
NM_000414.4(HSD17B4):c.*83T>G rs181310520
NM_000414.4(HSD17B4):c.1008T>A (p.Ser336=) rs1580623756
NM_000414.4(HSD17B4):c.1011T>C (p.Tyr337=)
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=) rs778708979
NM_000414.4(HSD17B4):c.1074A>G (p.Pro358=)
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=) rs1485011447
NM_000414.4(HSD17B4):c.112+8G>A rs770343200
NM_000414.4(HSD17B4):c.1125C>T (p.Pro375=)
NM_000414.4(HSD17B4):c.113-7A>G
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945
NM_000414.4(HSD17B4):c.1140C>T (p.Ile380=)
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=)
NM_000414.4(HSD17B4):c.1167A>T (p.Gly389=) rs1340926346
NM_000414.4(HSD17B4):c.1197C>T (p.Ile399=)
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1248A>G (p.Pro416=)
NM_000414.4(HSD17B4):c.1254C>T (p.Pro418=)
NM_000414.4(HSD17B4):c.1261+9T>C
NM_000414.4(HSD17B4):c.1262-10T>G
NM_000414.4(HSD17B4):c.1262-8C>A
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000414.4(HSD17B4):c.12G>A (p.Pro4=)
NM_000414.4(HSD17B4):c.1302T>C (p.Asp434=)
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=) rs369449821
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875
NM_000414.4(HSD17B4):c.1334-4T>A
NM_000414.4(HSD17B4):c.1335C>A (p.Val445=) rs749383778
NM_000414.4(HSD17B4):c.1347T>C (p.Ser449=)
NM_000414.4(HSD17B4):c.1350G>A (p.Glu450=)
NM_000414.4(HSD17B4):c.1383C>T (p.Leu461=)
NM_000414.4(HSD17B4):c.1398T>G (p.Ser466=) rs746787900
NM_000414.4(HSD17B4):c.13C>T (p.Leu5=)
NM_000414.4(HSD17B4):c.1419G>T (p.Arg473=)
NM_000414.4(HSD17B4):c.1434C>T (p.Val478=) rs1239905170
NM_000414.4(HSD17B4):c.1438-9T>G
NM_000414.4(HSD17B4):c.1449C>T (p.Ala483=)
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1491C>T (p.Thr497=)
NM_000414.4(HSD17B4):c.1542A>G (p.Leu514=)
NM_000414.4(HSD17B4):c.1545C>T (p.His515=)
NM_000414.4(HSD17B4):c.1554T>C (p.Pro518=)
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.4(HSD17B4):c.1574-10C>T
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328
NM_000414.4(HSD17B4):c.1623C>G (p.Ala541=)
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967
NM_000414.4(HSD17B4):c.1626G>A (p.Arg542=)
NM_000414.4(HSD17B4):c.165T>C (p.Ala55=)
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880
NM_000414.4(HSD17B4):c.1674A>T (p.Ala558=)
NM_000414.4(HSD17B4):c.1680+7G>A
NM_000414.4(HSD17B4):c.1681-5T>A rs1045926538
NM_000414.4(HSD17B4):c.1710A>G (p.Gly570=) rs751248561
NM_000414.4(HSD17B4):c.1713A>G (p.Gln571=) rs1580700697
NM_000414.4(HSD17B4):c.1716T>C (p.Thr572=)
NM_000414.4(HSD17B4):c.1767+7A>G
NM_000414.4(HSD17B4):c.1768-10_1768-9delinsCT
NM_000414.4(HSD17B4):c.1768-5C>T
NM_000414.4(HSD17B4):c.1768-6_1768-4del rs755128532
NM_000414.4(HSD17B4):c.1768-9C>T rs1338480210
NM_000414.4(HSD17B4):c.177T>G (p.Val59=)
NM_000414.4(HSD17B4):c.1806T>C (p.Tyr602=)
NM_000414.4(HSD17B4):c.1833T>C (p.Thr611=)
NM_000414.4(HSD17B4):c.1836A>G (p.Ser612=)
NM_000414.4(HSD17B4):c.1848C>G (p.Pro616=)
NM_000414.4(HSD17B4):c.1855-6T>C
NM_000414.4(HSD17B4):c.1855-8G>A rs369600555
NM_000414.4(HSD17B4):c.1855-9C>T
NM_000414.4(HSD17B4):c.1855-9_1855-7del rs1440146478
NM_000414.4(HSD17B4):c.186A>C (p.Ile62=)
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=) rs745478996
NM_000414.4(HSD17B4):c.1875C>T (p.Thr625=)
NM_000414.4(HSD17B4):c.1878T>C (p.Phe626=)
NM_000414.4(HSD17B4):c.1905A>T (p.Leu635=) rs758434548
NM_000414.4(HSD17B4):c.1914T>A (p.Ile638=) rs1580711431
NM_000414.4(HSD17B4):c.1917G>A (p.Gly639=)
NM_000414.4(HSD17B4):c.1926G>T (p.Val642=)
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286
NM_000414.4(HSD17B4):c.1977T>C (p.Asn659=)
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818
NM_000414.4(HSD17B4):c.2061A>G (p.Thr687=)
NM_000414.4(HSD17B4):c.207A>G (p.Ala69=)
NM_000414.4(HSD17B4):c.2097C>T (p.Val699=)
NM_000414.4(HSD17B4):c.2115T>C (p.Pro705=)
NM_000414.4(HSD17B4):c.2122-4G>C
NM_000414.4(HSD17B4):c.2122-9T>C rs573283226
NM_000414.4(HSD17B4):c.2151A>G (p.Arg717=)
NM_000414.4(HSD17B4):c.2172G>A (p.Gln724=)
NM_000414.4(HSD17B4):c.2190T>C (p.Leu730=) rs1580736426
NM_000414.4(HSD17B4):c.21C>T (p.Phe7=)
NM_000414.4(HSD17B4):c.221-5C>T
NM_000414.4(HSD17B4):c.231A>G (p.Glu77=) rs1580547484
NM_000414.4(HSD17B4):c.249G>A (p.Val83=)
NM_000414.4(HSD17B4):c.27G>A (p.Gly9=) rs370888351
NM_000414.4(HSD17B4):c.280+10C>G
NM_000414.4(HSD17B4):c.281-5T>C
NM_000414.4(HSD17B4):c.281-9A>G
NM_000414.4(HSD17B4):c.302+7A>G
NM_000414.4(HSD17B4):c.303-3dup
NM_000414.4(HSD17B4):c.330G>A (p.Arg110=)
NM_000414.4(HSD17B4):c.351T>C (p.Asp117=)
NM_000414.4(HSD17B4):c.357C>A (p.Ile119=) rs374169186
NM_000414.4(HSD17B4):c.39G>T (p.Leu13=)
NM_000414.4(HSD17B4):c.402A>T (p.Ala134=)
NM_000414.4(HSD17B4):c.432A>G (p.Gly144=)
NM_000414.4(HSD17B4):c.456T>C (p.Ala152=)
NM_000414.4(HSD17B4):c.45C>T (p.Thr15=)
NM_000414.4(HSD17B4):c.498T>G (p.Ala166=)
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310
NM_000414.4(HSD17B4):c.519C>T (p.Gly173=)
NM_000414.4(HSD17B4):c.51G>T (p.Ala17=) rs756529538
NM_000414.4(HSD17B4):c.537A>G (p.Ala179=)
NM_000414.4(HSD17B4):c.54G>A (p.Gly18=)
NM_000414.4(HSD17B4):c.58+10C>T
NM_000414.4(HSD17B4):c.58+7A>G
NM_000414.4(HSD17B4):c.585T>C (p.Asn195=)
NM_000414.4(HSD17B4):c.59-8T>A
NM_000414.4(HSD17B4):c.591A>G (p.Gly197=)
NM_000414.4(HSD17B4):c.594A>T (p.Ser198=)
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=) rs770261826
NM_000414.4(HSD17B4):c.627T>C (p.Leu209=)
NM_000414.4(HSD17B4):c.636C>T (p.Ala212=)
NM_000414.4(HSD17B4):c.642G>A (p.Lys214=)
NM_000414.4(HSD17B4):c.645A>G (p.Pro215=)
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=)
NM_000414.4(HSD17B4):c.654G>C (p.Val218=)
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.669T>C (p.Leu223=)
NM_000414.4(HSD17B4):c.675T>G (p.Leu225=) rs771467784
NM_000414.4(HSD17B4):c.681C>T (p.His227=)
NM_000414.4(HSD17B4):c.699T>C (p.Asn233=)
NM_000414.4(HSD17B4):c.6C>T (p.Gly2=)
NM_000414.4(HSD17B4):c.715-13C>T rs185869017
NM_000414.4(HSD17B4):c.715-7T>C
NM_000414.4(HSD17B4):c.72C>T (p.Ala24=)
NM_000414.4(HSD17B4):c.739+6TC[2]
NM_000414.4(HSD17B4):c.739+8T>C
NM_000414.4(HSD17B4):c.740-7T>C
NM_000414.4(HSD17B4):c.789A>G (p.Pro263=)
NM_000414.4(HSD17B4):c.78C>T (p.Ala26=)
NM_000414.4(HSD17B4):c.807C>G (p.Val269=)
NM_000414.4(HSD17B4):c.807C>T (p.Val269=)
NM_000414.4(HSD17B4):c.810G>A (p.Lys270=)
NM_000414.4(HSD17B4):c.81G>T (p.Leu27=)
NM_000414.4(HSD17B4):c.822G>A (p.Lys274=)
NM_000414.4(HSD17B4):c.869-8C>T
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.951G>T (p.Thr317=)
NM_000414.4(HSD17B4):c.954T>C (p.Ser318=)
NM_000414.4(HSD17B4):c.957A>G (p.Thr319=) rs748258737
NM_000414.4(HSD17B4):c.960A>G (p.Ala320=)
NM_000414.4(HSD17B4):c.963A>C (p.Thr321=)
NM_000414.4(HSD17B4):c.972+10A>G
NM_000414.4(HSD17B4):c.981T>C (p.Ala327=)
NM_000414.4(HSD17B4):c.99A>G (p.Gly33=) rs749165759

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