ClinVar Miner

List of variants studied for Perrault syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln) rs572177274 0.00008
NM_000414.4(HSD17B4):c.*235T>C rs553631151 0.00003
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410 0.00003
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln) rs141315771 0.00003
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) rs141097216 0.00002
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) rs1131692170 0.00001
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036 0.00001
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) rs749627411 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) rs672601361 0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00001
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) rs672601360 0.00001
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.244G>T (p.Val82Phe)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_006012.4(CLPP):c.270+4A>G rs398123035
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_012208.4(HARS2):c.1010A>G (p.Tyr337Cys)
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.351G>C (p.Met117Ile)
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_021830.5(TWNK):c.968G>A (p.Arg323Gln)
NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A

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.