ClinVar Miner

List of variants in gene HSD17B4 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
Download table as spreadsheet
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.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.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.1855-8G>A rs369600555 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.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.278T>C (p.Ile93Thr) rs544455125 0.00001
NM_000414.4(HSD17B4):c.374G>A (p.Arg125Gln) rs781172854 0.00001
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310 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.1132G>A (p.Gly378Arg) rs1006852881
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.1628G>C (p.Arg543Pro) rs201009485
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.271G>A (p.Gly91Arg) rs1561440976
NM_000414.4(HSD17B4):c.301G>C (p.Gly101Arg) rs886042726
NM_000414.4(HSD17B4):c.650A>T (p.Tyr217Phe) rs387906825
NM_000414.4(HSD17B4):c.739+7C>G rs967006259
NM_000414.4(HSD17B4):c.803C>T (p.Ala268Val) rs1561458037
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.977G>C (p.Gly326Ala) rs771498011

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.