ClinVar Miner

List of variants studied for hemophagocytic syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00057
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys) rs755931780 0.00006
NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu) rs756651685 0.00004
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_006949.4(STXBP2):c.1225C>T (p.Leu409Phe) rs763024326 0.00001
NM_000081.4(LYST):c.11167G>T (p.Ala3723Ser)
NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)
NM_000081.4(LYST):c.1829A>T (p.His610Leu)
NM_000081.4(LYST):c.2768C>T (p.Ser923Leu)
NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)
NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.6142A>G (p.Lys2048Glu)
NM_000081.4(LYST):c.7647G>A (p.Gln2549=)
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln) rs145937442
NM_172071.4(RC3H1):c.437T>C (p.Val146Ala)
NM_199242.3(UNC13D):c.1340T>G (p.Leu447Arg) rs1333471306

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.