ClinVar Miner

List of variants reported as likely benign for Familial hemophagocytic lymphohistiocytosis 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003764.4(STX11):c.*3670C>G rs79283142 0.01181
NM_003764.4(STX11):c.146G>A (p.Arg49Gln) rs17073498 0.00767
NM_003764.4(STX11):c.*1845C>T rs115419947 0.00646
NM_003764.4(STX11):c.799G>A (p.Val267Met) rs45574234 0.00545
NM_003764.4(STX11):c.*3298T>A rs75318897 0.00321
NM_003764.4(STX11):c.*4283G>A rs145148729 0.00321
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718 0.00274
NM_003764.4(STX11):c.*4070C>A rs148176592 0.00253
NM_003764.4(STX11):c.839G>A (p.Cys280Tyr) rs34282765 0.00215
NM_003764.4(STX11):c.83C>T (p.Ser28Leu) rs143547259 0.00082
NM_003764.4(STX11):c.26T>G (p.Leu9Arg) rs34470310 0.00076
NM_003764.4(STX11):c.589G>A (p.Val197Met) rs141499372 0.00033
NM_003764.4(STX11):c.699G>C (p.Val233=) rs140973625 0.00018
NM_003764.4(STX11):c.729C>T (p.Asn243=) rs534184432 0.00010
NM_003764.4(STX11):c.831C>A (p.Thr277=) rs763282100 0.00006
NM_003764.4(STX11):c.423C>T (p.Arg141=) rs768985732 0.00004
NM_003764.4(STX11):c.651G>T (p.Leu217=) rs761372226 0.00004
NM_003764.4(STX11):c.738G>A (p.Glu246=) rs984613653 0.00004
NM_003764.4(STX11):c.237C>T (p.Leu79=) rs201775530 0.00003
NM_003764.4(STX11):c.573G>A (p.Glu191=) rs772078139 0.00003
NM_003764.4(STX11):c.183C>T (p.Asp61=) rs374922198 0.00002
NM_003764.4(STX11):c.585C>A (p.Ala195=) rs147525157 0.00002
NM_003764.4(STX11):c.105C>T (p.Phe35=) rs770690889 0.00001
NM_003764.4(STX11):c.15A>G (p.Leu5=) rs202220813 0.00001
NM_003764.4(STX11):c.387G>A (p.Arg129=) rs1802063048 0.00001
NM_003764.4(STX11):c.408C>A (p.Thr136=) rs780418852 0.00001
NM_003764.4(STX11):c.414C>T (p.Thr138=) rs1305403021 0.00001
NM_003764.4(STX11):c.570C>T (p.Ser190=) rs148354227 0.00001
NM_003764.4(STX11):c.675C>T (p.His225=) rs756608402 0.00001
NM_003764.4(STX11):c.798C>T (p.Ala266=) rs1487649315 0.00001
NM_003764.4(STX11):c.*390T>C rs79627238
NM_003764.4(STX11):c.111G>C (p.Thr37=)
NM_003764.4(STX11):c.120C>T (p.Ile40=)
NM_003764.4(STX11):c.121C>T (p.Leu41=)
NM_003764.4(STX11):c.13C>T (p.Leu5=) rs1802043754
NM_003764.4(STX11):c.141C>T (p.Asp47=) rs752790166
NM_003764.4(STX11):c.156G>A (p.Gln52=)
NM_003764.4(STX11):c.172C>T (p.Leu58=)
NM_003764.4(STX11):c.174G>A (p.Leu58=)
NM_003764.4(STX11):c.174G>C (p.Leu58=)
NM_003764.4(STX11):c.180C>A (p.Ala60=)
NM_003764.4(STX11):c.180C>T (p.Ala60=) rs1222437687
NM_003764.4(STX11):c.189G>A (p.Lys63=)
NM_003764.4(STX11):c.193C>T (p.Leu65=) rs780525714
NM_003764.4(STX11):c.204G>A (p.Gln68=)
NM_003764.4(STX11):c.221C>T (p.Thr74Met) rs540150447
NM_003764.4(STX11):c.222G>A (p.Thr74=)
NM_003764.4(STX11):c.229C>A (p.Arg77=) rs778807808
NM_003764.4(STX11):c.243C>T (p.Ser81=)
NM_003764.4(STX11):c.246C>T (p.Ile82=)
NM_003764.4(STX11):c.255C>T (p.Asp85=) rs2128756929
NM_003764.4(STX11):c.258C>T (p.Thr86=) rs2128756931
NM_003764.4(STX11):c.264C>T (p.Ser88=) rs774895225
NM_003764.4(STX11):c.267C>T (p.Ile89=)
NM_003764.4(STX11):c.291C>T (p.Gly97=)
NM_003764.4(STX11):c.303C>T (p.His101=)
NM_003764.4(STX11):c.324G>A (p.Lys108=)
NM_003764.4(STX11):c.327G>A (p.Glu109=)
NM_003764.4(STX11):c.336G>A (p.Glu112=)
NM_003764.4(STX11):c.33G>A (p.Leu11=)
NM_003764.4(STX11):c.342T>A (p.Ala114=)
NM_003764.4(STX11):c.354C>T (p.His118=)
NM_003764.4(STX11):c.360G>A (p.Pro120=)
NM_003764.4(STX11):c.363C>T (p.His121=)
NM_003764.4(STX11):c.366G>C (p.Ser122=)
NM_003764.4(STX11):c.369A>G (p.Ala123=) rs763493074
NM_003764.4(STX11):c.36C>T (p.Ser12=)
NM_003764.4(STX11):c.384G>C (p.Ser128=)
NM_003764.4(STX11):c.402G>A (p.Ala134=)
NM_003764.4(STX11):c.405C>A (p.Leu135=)
NM_003764.4(STX11):c.405C>T (p.Leu135=)
NM_003764.4(STX11):c.423C>A (p.Arg141=) rs768985732
NM_003764.4(STX11):c.423C>G (p.Arg141=) rs768985732
NM_003764.4(STX11):c.426C>A (p.Ala142=)
NM_003764.4(STX11):c.432C>T (p.His144=)
NM_003764.4(STX11):c.435C>T (p.Asp145=) rs1802066250
NM_003764.4(STX11):c.447C>T (p.Ala149=)
NM_003764.4(STX11):c.459G>A (p.Gln153=)
NM_003764.4(STX11):c.489C>T (p.Arg163=)
NM_003764.4(STX11):c.492G>A (p.Gln164=)
NM_003764.4(STX11):c.513A>G (p.Glu171=)
NM_003764.4(STX11):c.516C>T (p.Val172=) rs2128757246
NM_003764.4(STX11):c.519G>A (p.Ser173=)
NM_003764.4(STX11):c.51G>A (p.Gln17=)
NM_003764.4(STX11):c.534G>A (p.Glu178=)
NM_003764.4(STX11):c.543C>T (p.Phe181=)
NM_003764.4(STX11):c.561C>T (p.Asp187=)
NM_003764.4(STX11):c.570C>G (p.Ser190=)
NM_003764.4(STX11):c.576C>T (p.Asn192=)
NM_003764.4(STX11):c.57C>T (p.Phe19=)
NM_003764.4(STX11):c.580C>T (p.Leu194=) rs2128757281
NM_003764.4(STX11):c.585C>G (p.Ala195=)
NM_003764.4(STX11):c.588C>T (p.Asp196=)
NM_003764.4(STX11):c.594G>A (p.Lys198=)
NM_003764.4(STX11):c.606C>A (p.Ala202=)
NM_003764.4(STX11):c.606C>G (p.Ala202=) rs781652788
NM_003764.4(STX11):c.612C>A (p.Leu204=)
NM_003764.4(STX11):c.618G>A (p.Glu206=)
NM_003764.4(STX11):c.621C>T (p.Ile207=)
NM_003764.4(STX11):c.624G>A (p.Glu208=)
NM_003764.4(STX11):c.630C>T (p.Arg210=)
NM_003764.4(STX11):c.633C>T (p.His211=)
NM_003764.4(STX11):c.63C>T (p.Asp21=) rs149176821
NM_003764.4(STX11):c.645G>C (p.Leu215=)
NM_003764.4(STX11):c.649C>T (p.Leu217=)
NM_003764.4(STX11):c.657C>T (p.Ser219=)
NM_003764.4(STX11):c.678G>A (p.Glu226=)
NM_003764.4(STX11):c.700C>T (p.Leu234=)
NM_003764.4(STX11):c.705G>A (p.Val235=)
NM_003764.4(STX11):c.708G>A (p.Glu236=)
NM_003764.4(STX11):c.717C>T (p.Ala239=)
NM_003764.4(STX11):c.720C>T (p.Asp240=)
NM_003764.4(STX11):c.732C>T (p.Val244=)
NM_003764.4(STX11):c.741C>A (p.Leu247=)
NM_003764.4(STX11):c.741C>T (p.Leu247=)
NM_003764.4(STX11):c.750A>G (p.Gln250=) rs1165149442
NM_003764.4(STX11):c.756G>A (p.Thr252=)
NM_003764.4(STX11):c.756G>C (p.Thr252=) rs1419598166
NM_003764.4(STX11):c.756G>T (p.Thr252=)
NM_003764.4(STX11):c.759C>A (p.Val253=)
NM_003764.4(STX11):c.768C>T (p.Thr256=)
NM_003764.4(STX11):c.780G>A (p.Lys260=)
NM_003764.4(STX11):c.801G>A (p.Val267=)
NM_003764.4(STX11):c.822C>T (p.Pro274=)
NM_003764.4(STX11):c.825C>T (p.Cys275=)
NM_003764.4(STX11):c.846C>T (p.Cys282=)
NM_003764.4(STX11):c.858C>A (p.Leu286=)
NM_003764.4(STX11):c.861G>A (p.Lys287=)
NM_003764.4(STX11):c.87C>T (p.Pro29=)
NM_003764.4(STX11):c.90C>T (p.His30=) rs751806887
NM_003764.4(STX11):c.93G>A (p.Glu31=)
NM_003764.4(STX11):c.96C>T (p.Asp32=) rs2128756763

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.