ClinVar Miner

List of variants reported as likely pathogenic for hemophagocytic syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00002
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile) rs758728749 0.00002
NM_199242.3(UNC13D):c.322-2A>T rs752651197 0.00002
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn) rs1324261340 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys) rs902124045 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_199242.3(UNC13D):c.2830+2del rs1287388302 0.00001
NM_199242.3(UNC13D):c.569+5G>A rs765034513 0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NC_000017.11:g.75834356_75834365delinsTCGGACAAGGTA rs1567818219
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10524dup (p.Arg3509fs)
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
NM_000081.4(LYST):c.10941-2A>G
NM_000081.4(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.4(LYST):c.265C>T (p.Gln89Ter)
NM_000081.4(LYST):c.326_338del (p.Glu109fs)
NM_000081.4(LYST):c.3384dup (p.Pro1129fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3655G>T (p.Glu1219Ter)
NM_000081.4(LYST):c.3712+2T>C
NM_000081.4(LYST):c.4333del (p.His1445fs)
NM_000081.4(LYST):c.4433G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4543+1G>A
NM_000081.4(LYST):c.4862+2T>A
NM_000081.4(LYST):c.5922+1G>A
NM_000081.4(LYST):c.6132_6133del (p.Phe2045fs)
NM_000081.4(LYST):c.6380del (p.Cys2127fs)
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
NM_000081.4(LYST):c.7551dup (p.Gln2518fs)
NM_000081.4(LYST):c.7921C>T (p.Gln2641Ter)
NM_000081.4(LYST):c.8156C>G (p.Ser2719Ter)
NM_000081.4(LYST):c.8284A>T (p.Lys2762Ter)
NM_000081.4(LYST):c.8469dup (p.Cys2824fs)
NM_000081.4(LYST):c.9045_9046del
NM_000081.4(LYST):c.9070del (p.Ala3024fs)
NM_000081.4(LYST):c.969dup (p.Gln324fs)
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_001083116.3(PRF1):c.1179C>A (p.Cys393Ter)
NM_001083116.3(PRF1):c.133G>C (p.Gly45Arg)
NM_001083116.3(PRF1):c.140G>T (p.Gly47Val)
NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu) rs761310644
NM_001083116.3(PRF1):c.242del (p.Gln81fs)
NM_001083116.3(PRF1):c.284_285del (p.Trp95fs)
NM_001083116.3(PRF1):c.315_340dup (p.Thr114delinsMetTer)
NM_001083116.3(PRF1):c.387G>A (p.Trp129Ter)
NM_001083116.3(PRF1):c.457C>T (p.Gln153Ter)
NM_001083116.3(PRF1):c.730_731delinsG (p.Leu244fs)
NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)
NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter) rs1259291325
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.3149_3150del (p.Val1050fs)
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_003764.4(STX11):c.396C>A (p.Tyr132Ter)
NM_003764.4(STX11):c.794del (p.Lys265fs)
NM_006949.4(STXBP2):c.1107+1G>C
NM_006949.4(STXBP2):c.1648_1651dup (p.Tyr551fs)
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.37+5G>A
NM_006949.4(STXBP2):c.426_429+13del
NM_006949.4(STXBP2):c.560C>T (p.Pro187Leu)
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.83-1G>A
NM_199242.3(UNC13D):c.1177G>T (p.Glu393Ter)
NM_199242.3(UNC13D):c.118-2A>G
NM_199242.3(UNC13D):c.1193C>A (p.Ser398Ter)
NM_199242.3(UNC13D):c.1523_1524dup (p.Trp509fs)
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.2447+2T>C
NM_199242.3(UNC13D):c.2831-13G>A rs1005334519
NM_199242.3(UNC13D):c.2847dup (p.Val950fs)
NM_199242.3(UNC13D):c.289C>T (p.Gln97Ter)
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs) rs1048876742
NM_199242.3(UNC13D):c.3152-2A>C
NM_199242.3(UNC13D):c.3225dup (p.His1076fs)
NM_199242.3(UNC13D):c.783C>G (p.Tyr261Ter)
NM_199242.3(UNC13D):c.810C>A (p.Tyr270Ter)
NM_199242.3(UNC13D):c.858+1G>A

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