ClinVar Miner

List of variants reported as uncertain significance for hyperimmunoglobulinemia D with periodic fever

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.*332C>T rs574536495 0.00175
NM_000431.4(MVK):c.*601G>A rs536969522 0.00170
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000431.4(MVK):c.*75T>G rs138924471 0.00071
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_000431.4(MVK):c.*468C>T rs768794506 0.00032
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) rs201360189 0.00022
NM_000431.4(MVK):c.*358G>A rs575863113 0.00021
NM_000431.4(MVK):c.*431C>T rs72648044 0.00021
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914 0.00018
NM_000431.4(MVK):c.524A>G (p.Asn175Ser) rs138818135 0.00014
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705 0.00011
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 0.00009
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
NM_000431.4(MVK):c.-15G>A rs567278499 0.00006
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.889C>A (p.Leu297Ile) rs1047311477 0.00006
NM_000431.4(MVK):c.*333G>A rs770255513 0.00005
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_000431.4(MVK):c.449C>T (p.Ser150Leu) rs747116992 0.00004
NM_000431.4(MVK):c.722G>A (p.Arg241His) rs372166675 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352 0.00004
NM_000431.4(MVK):c.*486C>T rs1359708981 0.00003
NM_000431.4(MVK):c.-33G>A rs886048930 0.00003
NM_000431.4(MVK):c.-55G>C rs886048929 0.00003
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) rs202167435 0.00002
NM_000431.4(MVK):c.298G>A (p.Asp100Asn) rs751713601 0.00002
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320 0.00002
NM_000431.4(MVK):c.418G>A (p.Gly140Arg) rs781108404 0.00002
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.78+8G>A rs766391278 0.00002
NM_000431.4(MVK):c.870G>T (p.Gln290His) rs376025633 0.00002
NM_000431.4(MVK):c.*550G>A rs886048936 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934 0.00001
NM_000431.4(MVK):c.1174G>A (p.Ala392Thr) rs1314369808 0.00001
NM_000431.4(MVK):c.118C>T (p.Arg40Trp) rs1055952433 0.00001
NM_000431.4(MVK):c.166A>G (p.Ile56Val) rs149095003 0.00001
NM_000431.4(MVK):c.188A>T (p.Asp63Val) rs1165875328 0.00001
NM_000431.4(MVK):c.197G>A (p.Arg66Lys) rs757565098 0.00001
NM_000431.4(MVK):c.227A>G (p.Glu76Gly) rs1593015412 0.00001
NM_000431.4(MVK):c.313G>A (p.Glu105Lys) rs1458440007 0.00001
NM_000431.4(MVK):c.32C>T (p.Pro11Leu) rs876661001 0.00001
NM_000431.4(MVK):c.372-3C>T rs104895354 0.00001
NM_000431.4(MVK):c.423G>A (p.Ala141=) rs756068705 0.00001
NM_000431.4(MVK):c.483C>T (p.Cys161=) rs777886684 0.00001
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031 0.00001
NM_000431.4(MVK):c.527+13C>A rs199670546 0.00001
NM_000431.4(MVK):c.527+8T>C rs377547988 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 0.00001
NM_000431.4(MVK):c.592G>C (p.Gly198Arg) rs202172198 0.00001
NM_000431.4(MVK):c.631+3A>G rs1178525841 0.00001
NM_000431.4(MVK):c.755A>G (p.Asn252Ser) rs112324119 0.00001
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079 0.00001
NM_000431.4(MVK):c.886-2dup rs1332047942 0.00001
NM_000431.4(MVK):c.89C>T (p.Ala30Val) rs769000203 0.00001
NM_000431.4(MVK):c.961G>A (p.Val321Met) rs779869991 0.00001
NC_000012.11:g.(?_109921357)_(110034382_?)dup
NM_000431.4(MVK):c.*125G>T rs541159703
NM_000431.4(MVK):c.*308G>A rs886048935
NM_000431.4(MVK):c.*566G>C rs1473857064
NM_000431.4(MVK):c.*571G>A rs548094591
NM_000431.4(MVK):c.1014C>G (p.Gly338=)
NM_000431.4(MVK):c.1019G>C (p.Gly340Ala)
NM_000431.4(MVK):c.1027C>T (p.Leu343Phe)
NM_000431.4(MVK):c.1040-6_1040-5inv
NM_000431.4(MVK):c.1045G>C (p.Glu349Gln)
NM_000431.4(MVK):c.1046A>C (p.Glu349Ala)
NM_000431.4(MVK):c.1055A>C (p.Glu352Ala) rs879219256
NM_000431.4(MVK):c.1066A>G (p.Thr356Ala)
NM_000431.4(MVK):c.1067C>A (p.Thr356Lys) rs104895342
NM_000431.4(MVK):c.1073A>C (p.Gln358Pro) rs1885916592
NM_000431.4(MVK):c.1076C>A (p.Ala359Asp)
NM_000431.4(MVK):c.1078C>G (p.Leu360Val) rs2136257244
NM_000431.4(MVK):c.1096G>C (p.Asp366His) rs1566153793
NM_000431.4(MVK):c.1096G>T (p.Asp366Tyr)
NM_000431.4(MVK):c.1124C>T (p.Pro375Leu)
NM_000431.4(MVK):c.1135A>G (p.Ile379Val)
NM_000431.4(MVK):c.1142C>T (p.Ser381Leu)
NM_000431.4(MVK):c.1175C>T (p.Ala392Val) rs1189179026
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.119G>T (p.Arg40Leu) rs373095009
NM_000431.4(MVK):c.125A>C (p.Gln42Pro)
NM_000431.4(MVK):c.172A>G (p.Ile58Val)
NM_000431.4(MVK):c.179G>A (p.Arg60Gln)
NM_000431.4(MVK):c.187G>A (p.Asp63Asn) rs1884939365
NM_000431.4(MVK):c.194C>G (p.Ala65Gly)
NM_000431.4(MVK):c.194C>T (p.Ala65Val)
NM_000431.4(MVK):c.203A>G (p.Gln68Arg)
NM_000431.4(MVK):c.230A>G (p.Gln77Arg)
NM_000431.4(MVK):c.244A>G (p.Thr82Ala) rs2136224465
NM_000431.4(MVK):c.254C>T (p.Ser85Leu) rs1885131607
NM_000431.4(MVK):c.288C>T (p.Gly96=) rs2136224524
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr) rs886048931
NM_000431.4(MVK):c.312C>T (p.Thr104=)
NM_000431.4(MVK):c.316C>T (p.Arg106Cys)
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416
NM_000431.4(MVK):c.341A>G (p.Tyr114Cys)
NM_000431.4(MVK):c.349C>G (p.Leu117Val) rs374204972
NM_000431.4(MVK):c.350T>C (p.Leu117Pro)
NM_000431.4(MVK):c.368A>T (p.Gln123Leu) rs978964462
NM_000431.4(MVK):c.36G>T (p.Gly12=) rs1884860868
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.371+4T>C rs1885141606
NM_000431.4(MVK):c.37A>C (p.Lys13Gln) rs104895307
NM_000431.4(MVK):c.419G>T (p.Gly140Val)
NM_000431.4(MVK):c.451G>T (p.Val151Leu) rs1885215026
NM_000431.4(MVK):c.458T>C (p.Leu153Pro)
NM_000431.4(MVK):c.479T>A (p.Val160Glu)
NM_000431.4(MVK):c.491T>A (p.Ile164Asn)
NM_000431.4(MVK):c.503_508del (p.Leu168_Asp170delinsHis) rs1885218525
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.520G>A (p.Val174Ile) rs369227329
NM_000431.4(MVK):c.520G>T (p.Val174Phe)
NM_000431.4(MVK):c.528-10_528-7del
NM_000431.4(MVK):c.528-3C>T
NM_000431.4(MVK):c.533C>T (p.Thr178Ile)
NM_000431.4(MVK):c.577G>A (p.Glu193Lys)
NM_000431.4(MVK):c.581G>T (p.Arg194Ile)
NM_000431.4(MVK):c.592G>A (p.Gly198Arg) rs202172198
NM_000431.4(MVK):c.595A>T (p.Asn199Tyr) rs1566147301
NM_000431.4(MVK):c.598C>T (p.Pro200Ser) rs886048932
NM_000431.4(MVK):c.631+3A>T
NM_000431.4(MVK):c.632-19_632-18inv
NM_000431.4(MVK):c.632-3T>A rs2136238080
NM_000431.4(MVK):c.632-3del rs1885451714
NM_000431.4(MVK):c.641T>A (p.Leu214His)
NM_000431.4(MVK):c.64G>C (p.Val22Leu) rs1217259118
NM_000431.4(MVK):c.653A>C (p.Gln218Pro) rs2136238122
NM_000431.4(MVK):c.659A>C (p.Lys220Thr)
NM_000431.4(MVK):c.677+5C>A
NM_000431.4(MVK):c.677G>A (p.Arg226Lys)
NM_000431.4(MVK):c.678-3C>A rs1885632836
NM_000431.4(MVK):c.67G>A (p.Val23Ile) rs2136216776
NM_000431.4(MVK):c.680C>G (p.Ser227Trp)
NM_000431.4(MVK):c.709A>G (p.Thr237Ala)
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) rs758952837
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.71A>C (p.His24Pro)
NM_000431.4(MVK):c.724A>G (p.Asn242Asp) rs1885636019
NM_000431.4(MVK):c.752G>A (p.Arg251Lys) rs1885638229
NM_000431.4(MVK):c.775G>A (p.Glu259Lys) rs1885663402
NM_000431.4(MVK):c.778A>T (p.Ile260Phe)
NM_000431.4(MVK):c.781G>A (p.Val261Met)
NM_000431.4(MVK):c.784G>T (p.Ala262Ser) rs1386402188
NM_000431.4(MVK):c.790C>G (p.Leu264Val)
NM_000431.4(MVK):c.805G>A (p.Asp269Asn)
NM_000431.4(MVK):c.809C>A (p.Ala270Asp) rs866006959
NM_000431.4(MVK):c.80T>G (p.Val27Gly) rs770136482
NM_000431.4(MVK):c.824G>A (p.Cys275Tyr)
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.865G>C (p.Glu289Gln) rs1406107674
NM_000431.4(MVK):c.86T>C (p.Leu29Pro)
NM_000431.4(MVK):c.938C>A (p.Ala313Asp)
NM_000431.4(MVK):c.938C>T (p.Ala313Val)
NM_000431.4(MVK):c.973C>T (p.Arg325Cys)
NM_000431.4(MVK):c.986G>A (p.Ser329Asn) rs104895350
NM_000431.4(MVK):c.998G>A (p.Gly333Asp)
NM_052845.4(MMAB):c.-11C>G rs1228106972

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