ClinVar Miner

List of variants reported as benign for Familial hemophagocytic lymphohistiocytosis 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_006949.4(STXBP2):c.1247-43T>C rs929807 0.46002
NM_006949.4(STXBP2):c.1356+18A>G rs889187 0.44557
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_006949.4(STXBP2):c.1696+28G>C rs34976997 0.34997
NM_006949.4(STXBP2):c.1696+20A>G rs2303113 0.08971
NM_006949.4(STXBP2):c.1247-10C>T rs61407177 0.04087
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592 0.00997
NM_006949.4(STXBP2):c.169+12C>T rs115239774 0.00930
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) rs61736589 0.00904
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_006949.4(STXBP2):c.609C>T (p.His203=) rs113694233 0.00367
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_006949.4(STXBP2):c.1538+10C>T rs139200597 0.00210
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116 0.00164
NM_006949.4(STXBP2):c.246+18C>T rs201657700 0.00133
NM_006949.4(STXBP2):c.960+18T>A rs200402185 0.00101
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) rs138099253 0.00090
NM_006949.4(STXBP2):c.846C>T (p.Asp282=) rs143108973 0.00080
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_006949.4(STXBP2):c.816C>T (p.Ser272=) rs78010345 0.00053
NM_006949.4(STXBP2):c.185A>G (p.Asn62Ser) rs540968221 0.00040
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_006949.4(STXBP2):c.717C>T (p.Pro239=) rs367755105 0.00014
NM_006949.4(STXBP2):c.1356+13C>T rs544312114 0.00011
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.1027-17CACCCTG[3] rs776600326
NM_006949.4(STXBP2):c.1107+22del
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1246+11del
NM_006949.4(STXBP2):c.1356+25del
NM_006949.4(STXBP2):c.1538+11G>A rs560026431
NM_006949.4(STXBP2):c.1538+14del rs1430700652
NM_006949.4(STXBP2):c.1538+22del
NM_006949.4(STXBP2):c.169+18del
NM_006949.4(STXBP2):c.1697-26T>G rs794073
NM_006949.4(STXBP2):c.246+19GT[3] rs771901697
NM_006949.4(STXBP2):c.663+19del rs111268794
NM_006949.4(STXBP2):c.87+7dup

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.