ClinVar Miner

List of variants reported as uncertain significance for Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00120
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00088
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00060
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met) rs143523507 0.00047
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) rs145091234 0.00043
NM_005529.7(HSPG2):c.931G>C (p.Glu311Gln) rs200992640 0.00035
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_005529.7(HSPG2):c.13004-5G>A rs376645617 0.00032
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00017
NM_005529.7(HSPG2):c.5347G>A (p.Val1783Met) rs200944352 0.00016
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=) rs144447618 0.00014
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00013
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe) rs201491948 0.00012
NM_005529.7(HSPG2):c.2008G>A (p.Val670Ile) rs147810145 0.00011
NM_005529.7(HSPG2):c.6584G>A (p.Arg2195Gln) rs144068565 0.00011
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005529.7(HSPG2):c.10096C>T (p.Arg3366Trp) rs139956831 0.00006
NM_005529.7(HSPG2):c.11974C>T (p.Arg3992Cys) rs150012971 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln) rs369313904 0.00005
NM_005529.7(HSPG2):c.5174G>A (p.Arg1725Gln) rs377462320 0.00005
NM_005529.7(HSPG2):c.5953G>A (p.Ala1985Thr) rs377309837 0.00004
NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys) rs181945618 0.00004
NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg) rs368801694 0.00003
NM_005529.7(HSPG2):c.5998-5G>A rs764410384 0.00003
NM_005529.7(HSPG2):c.12455C>T (p.Pro4152Leu) rs1377175184 0.00002
NM_005529.7(HSPG2):c.3414+5G>A rs764695599 0.00002
NM_005529.7(HSPG2):c.7510C>T (p.Arg2504Cys) rs761830794 0.00002
NM_005529.7(HSPG2):c.1903G>A (p.Val635Met) rs558525559 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.6871-10G>A rs1342636987 0.00001
NM_005529.7(HSPG2):c.9097G>A (p.Val3033Met) rs138424698 0.00001
NM_005529.7(HSPG2):c.9920A>G (p.His3307Arg) rs779440838 0.00001
NM_005529.7(HSPG2):c.10679C>T (p.Ala3560Val) rs1181273724
NM_005529.7(HSPG2):c.11648C>G (p.Ser3883Trp) rs138145234
NM_005529.7(HSPG2):c.1258C>T (p.Arg420Trp) rs756956990
NM_005529.7(HSPG2):c.1584C>A (p.Ser528Arg)
NM_005529.7(HSPG2):c.1895G>A (p.Arg632Gln)
NM_005529.7(HSPG2):c.3275C>T (p.Ser1092Phe)
NM_005529.7(HSPG2):c.354+3G>A
NM_005529.7(HSPG2):c.385G>T (p.Asp129Tyr)
NM_005529.7(HSPG2):c.4022G>A (p.Arg1341His)
NM_005529.7(HSPG2):c.4210C>G (p.Gln1404Glu)
NM_005529.7(HSPG2):c.5567A>T (p.His1856Leu)
NM_005529.7(HSPG2):c.5894C>T (p.Thr1965Ile)
NM_005529.7(HSPG2):c.7240G>T (p.Val2414Leu) rs750738902
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.7813G>A (p.Gly2605Ser)
NM_005529.7(HSPG2):c.9900_9902dup (p.Ala3301dup) rs1345312289

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.