ClinVar Miner

List of variants in gene HSD17B4 reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.622+5G>A rs536487449 0.00006
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042 0.00005
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro) rs199659543 0.00005
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser) rs372914814 0.00004
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346 0.00003
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875 0.00003
NM_000414.4(HSD17B4):c.1452A>G (p.Ile484Met) rs376158204 0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.1663A>G (p.Arg555Gly) rs561555159 0.00003
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00003
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile) rs747214551 0.00002
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln) rs901553037 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.1881A>G (p.Val627=) rs201053163 0.00002
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235 0.00001
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser) rs757297524 0.00001
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035 0.00001
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=) rs745478996 0.00001
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys) rs752858179 0.00001
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125 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.1210-7A>G rs1751214001
NM_000414.4(HSD17B4):c.2122-9T>C rs573283226
NM_000414.4(HSD17B4):c.643C>T (p.Pro215Ser) rs552078818
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.869-4T>A rs1257077894

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.