ClinVar Miner

List of variants studied for Familial hemophagocytic lymphohistiocytosis 5 by Illumina Laboratory Services, Illumina

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Total variants: 48
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HGVS dbSNP gnomAD frequency
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.1590G>A (p.Ala530=) rs61736589 0.00904
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
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.365G>A (p.Arg122His) rs144914451 0.00229
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_006949.4(STXBP2):c.816C>T (p.Ser272=) rs78010345 0.00053
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_006949.4(STXBP2):c.1286C>T (p.Ala429Val) rs199924392 0.00036
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_006949.4(STXBP2):c.1027-10C>T rs201961771 0.00016
NM_006949.4(STXBP2):c.1356+13C>T rs544312114 0.00011
NM_006949.4(STXBP2):c.1723C>T (p.Arg575Cys) rs201481880 0.00009
NM_006949.4(STXBP2):c.333C>T (p.Pro111=) rs144233139 0.00008
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met) rs200135215 0.00008
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=) rs773575515 0.00005
NM_006949.4(STXBP2):c.1452+7G>T rs746604591 0.00004
NM_006949.4(STXBP2):c.1453-6C>T rs200538123 0.00004
NM_006949.4(STXBP2):c.1456G>A (p.Ala486Thr) rs199839827 0.00004
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) rs750599225 0.00004
NM_006949.4(STXBP2):c.1672G>A (p.Glu558Lys) rs758554274 0.00004
NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe) rs188212047 0.00004
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=) rs980486322 0.00003
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=) rs374131788 0.00003
NM_006949.4(STXBP2):c.321C>T (p.Thr107=) rs886054703 0.00003
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=) rs771186417 0.00001
NM_006949.4(STXBP2):c.169+11G>C rs756350869 0.00001
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.575G>A (p.Arg192His) rs113860815 0.00001
NM_006949.4(STXBP2):c.631G>A (p.Ala211Thr) rs774890011 0.00001
NM_006949.4(STXBP2):c.679C>T (p.Arg227Cys) rs372973081 0.00001
NM_006949.4(STXBP2):c.*7G>T rs886054706
NM_006949.4(STXBP2):c.1027-11G>C rs2031964890
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1459G>T (p.Val487Leu) rs150174842
NM_006949.4(STXBP2):c.145G>C (p.Asp49His) rs886054701
NM_006949.4(STXBP2):c.1495G>A (p.Val499Ile) rs377248327
NM_006949.4(STXBP2):c.14G>A (p.Gly5Glu) rs886054700
NM_006949.4(STXBP2):c.1502A>C (p.Asp501Ala) rs1568471865
NM_006949.4(STXBP2):c.1616T>C (p.Met539Thr) rs886054705
NM_006949.4(STXBP2):c.270C>T (p.Asp90=) rs886054702
NM_006949.4(STXBP2):c.795-14T>G rs1222017211
NM_006949.4(STXBP2):c.808G>A (p.Gly270Arg) rs187320742

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