ClinVar Miner

List of variants reported as pathogenic for hemophagocytic syndrome by OMIM

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) rs104894182 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_006949.4(STXBP2):c.902+5G>A rs768725365 0.00002
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter) rs757849893 0.00001
NC_000006.12:g.144176889_144196077del
NC_000015.9:g.55514530_55552423dup
NG_009103.1:g.(13486_?)_(?_81610)del
NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu) rs28933374
NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter) rs193302876
NM_001083116.3(PRF1):c.1286G>A (p.Gly429Glu) rs104894181
NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter) rs104894180
NM_001083116.3(PRF1):c.207del (p.Asp70fs) rs786205093
NM_001083116.3(PRF1):c.548T>G (p.Val183Gly) rs104894183
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
NM_003664.5(AP3B1):c.1473+6T>C rs1000881595
NM_003664.5(AP3B1):c.1474-7072_1650+921del
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.5(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_003764.4(STX11):c.369_376delinsTGG (p.Val124fs) rs483352901
NM_003764.4(STX11):c.802C>T (p.Gln268Ter) rs104893996
NM_006949.4(STXBP2):c.1146del (p.Lys383fs) rs2146226413
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.693_695del (p.Ile232del) rs1599398298
NM_012388.4(BLOC1S6):c.148G>T (p.Glu50Ter)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.285_286dup (p.His96fs)
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.351dup (p.Ile118fs)
NM_172071.4(RC3H1):c.2062C>T (p.Arg688Ter) rs1659895952
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile) rs2140989874
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu) rs2140958637
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.467+5G>A rs2140958268
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_199242.3(UNC13D):c.1208T>C (p.Leu403Pro) rs121434353
NM_199242.3(UNC13D):c.1754dup (p.His586fs) rs796065026
NM_199242.3(UNC13D):c.1828_1839del (p.Arg610_Gln613del) rs796065024
NM_199242.3(UNC13D):c.216del (p.Asn73fs) rs796065025
NM_199242.3(UNC13D):c.2570T>G (p.Phe857Cys) rs121434354
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352

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.