ClinVar Miner

List of variants in gene HSD17B4 reported as uncertain significance for not provided

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
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.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.1417C>T (p.Arg473Trp) rs201455193 0.00016
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.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.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.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000414.4(HSD17B4):c.2041A>G (p.Lys681Glu) rs139348491 0.00006
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.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.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.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.1105T>C (p.Ser369Pro) rs781084978 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.1361T>C (p.Ile454Thr) rs753362442 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.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.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.571A>G (p.Thr191Ala) rs1397379413 0.00001
NM_000414.4(HSD17B4):c.614T>C (p.Met205Thr) rs761601392 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.1020G>A (p.Thr340=)
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.1289C>A (p.Ala430Asp) rs1282621174
NM_000414.4(HSD17B4):c.1301A>G (p.Asp434Gly) rs886042516
NM_000414.4(HSD17B4):c.1432G>A (p.Val478Ile) rs772553851
NM_000414.4(HSD17B4):c.1484A>G (p.Asp495Gly) rs755720085
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.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.1855-9_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.1972G>A (p.Gly658Arg)
NM_000414.4(HSD17B4):c.2146G>T (p.Ala716Ser)
NM_000414.4(HSD17B4):c.271G>A (p.Gly91Arg) rs1561440976
NM_000414.4(HSD17B4):c.280G>T (p.Asp94Tyr) rs1748381199
NM_000414.4(HSD17B4):c.301G>C (p.Gly101Arg) rs886042726
NM_000414.4(HSD17B4):c.335G>C (p.Ser112Thr)
NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp)
NM_000414.4(HSD17B4):c.458C>T (p.Ser153Leu) rs2126702555
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.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.694G>A (p.Glu232Lys)
NM_000414.4(HSD17B4):c.739+7C>G rs967006259
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.951G>A (p.Thr317=) rs779198396
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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