ClinVar Miner

List of variants studied for hemophagocytic syndrome by Revvity Omics, Revvity

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_199242.3(UNC13D):c.2893G>A (p.Ala965Thr) rs144744401 0.00058
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val) rs142983846 0.00054
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00052
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln) rs138936105 0.00046
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_000081.4(LYST):c.692A>G (p.Gln231Arg) rs147433918 0.00043
NM_000081.4(LYST):c.6682G>C (p.Asp2228His) rs150270086 0.00042
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.997C>T (p.His333Tyr) rs140821981 0.00021
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn) rs148371004 0.00014
NM_000081.4(LYST):c.2438G>A (p.Arg813Gln) rs558162561 0.00013
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000081.4(LYST):c.2826A>G (p.Pro942=) rs149558986 0.00010
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp) rs200276917 0.00010
NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn) rs138179493 0.00009
NM_000081.4(LYST):c.949G>A (p.Glu317Lys) rs201337542 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val) rs375724532 0.00008
NM_000081.4(LYST):c.3931A>G (p.Met1311Val) rs376718077 0.00007
NM_000081.4(LYST):c.476G>A (p.Arg159Lys) rs111806240 0.00007
NM_000081.4(LYST):c.4983G>A (p.Leu1661=) rs1482156206 0.00006
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_000081.4(LYST):c.1290G>A (p.Met430Ile) rs779163460 0.00004
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile) rs776033238 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000081.4(LYST):c.85G>A (p.Ala29Thr) rs755173231 0.00003
NM_003764.4(STX11):c.403C>T (p.Leu135Phe) rs748690313 0.00003
NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser) rs760815034 0.00002
NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser) rs1481260242 0.00001
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr) rs376496670 0.00001
NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp) rs761351181 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_006949.4(STXBP2):c.962C>T (p.Ala321Val) rs753737127 0.00001
NM_199242.3(UNC13D):c.1055+1G>A rs754205110 0.00001
NM_199242.3(UNC13D):c.1727+1G>A rs754882266 0.00001
NM_199242.3(UNC13D):c.3220C>T (p.Arg1074Trp) rs749580256 0.00001
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys) rs558726483 0.00001
NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)
NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)
NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)
NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)
NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)
NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg)
NM_000081.4(LYST):c.10916C>T (p.Thr3639Ile)
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
NM_000081.4(LYST):c.10G>A (p.Asp4Asn)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.11368A>G (p.Met3790Val)
NM_000081.4(LYST):c.1412C>T (p.Ala471Val)
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.149G>A (p.Arg50Gln)
NM_000081.4(LYST):c.1536T>A (p.His512Gln)
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
NM_000081.4(LYST):c.1625A>G (p.Tyr542Cys)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1739T>C (p.Ile580Thr)
NM_000081.4(LYST):c.1746A>G (p.Ile582Met)
NM_000081.4(LYST):c.1880A>C (p.Glu627Ala)
NM_000081.4(LYST):c.1888C>G (p.Pro630Ala)
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)
NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2539_2541del (p.Lys847del)
NM_000081.4(LYST):c.253A>G (p.Lys85Glu)
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
NM_000081.4(LYST):c.2642C>T (p.Ala881Val)
NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)
NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)
NM_000081.4(LYST):c.2677G>A (p.Val893Ile)
NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla)
NM_000081.4(LYST):c.285T>C (p.Asp95=)
NM_000081.4(LYST):c.285T>G (p.Asp95Glu) rs747965676
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.310A>G (p.Ile104Val)
NM_000081.4(LYST):c.3142A>G (p.Ile1048Val)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)
NM_000081.4(LYST):c.3266A>G (p.Lys1089Arg)
NM_000081.4(LYST):c.345A>G (p.Gln115=)
NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)
NM_000081.4(LYST):c.3627T>G (p.Cys1209Trp)
NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)
NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del) rs770679237
NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.4040C>T (p.Ser1347Phe)
NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)
NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)
NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4544-3T>C
NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)
NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)
NM_000081.4(LYST):c.5349C>G (p.Ile1783Met)
NM_000081.4(LYST):c.53G>A (p.Arg18Gln)
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg)
NM_000081.4(LYST):c.5636C>T (p.Thr1879Ile)
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)
NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.6158T>C (p.Met2053Thr)
NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.4(LYST):c.6475G>T (p.Gly2159Cys)
NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly)
NM_000081.4(LYST):c.655A>G (p.Met219Val)
NM_000081.4(LYST):c.656T>C (p.Met219Thr)
NM_000081.4(LYST):c.6668G>T (p.Cys2223Phe)
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)
NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)
NM_000081.4(LYST):c.737T>C (p.Val246Ala)
NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)
NM_000081.4(LYST):c.7619G>A (p.Arg2540Lys)
NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)
NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8447T>A (p.Leu2816Gln)
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.4(LYST):c.9233G>A (p.Arg3078His)
NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)
NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)
NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp)
NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)
NM_000081.4(LYST):c.9944G>A (p.Arg3315His)
NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
NM_003664.5(AP3B1):c.280-2A>G
NM_006949.4(STXBP2):c.1538+12G>C
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
NM_199242.3(UNC13D):c.1246G>A (p.Val416Ile)
NM_199242.3(UNC13D):c.2089A>G (p.Met697Val) rs977219681
NM_199242.3(UNC13D):c.2125C>T (p.Arg709Trp) rs548101215
NM_199242.3(UNC13D):c.2381del (p.Leu794fs) rs2064882892
NM_199242.3(UNC13D):c.3006del (p.Val1003fs) rs2143861305
NM_199242.3(UNC13D):c.3103G>A (p.Gly1035Ser)
NM_199242.3(UNC13D):c.389-55C>T

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