ClinVar Miner

List of variants in gene MVK reported as likely benign for hyperimmunoglobulinemia D with periodic fever

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.*90G>A rs142150449 0.00310
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.-15+16C>T rs758229545 0.00041
NM_000431.4(MVK):c.371+20A>G rs142078694 0.00036
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_000431.4(MVK):c.-14-17T>C rs186232847 0.00029
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426 0.00024
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00023
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620 0.00011
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903 0.00010
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490 0.00007
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.855C>T (p.Ala285=) rs550696805 0.00006
NM_000431.4(MVK):c.886-15A>T rs367853629 0.00006
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000431.4(MVK):c.1039+7C>T rs370291700 0.00004
NM_000431.4(MVK):c.297C>T (p.Asp99=) rs376323791 0.00004
NM_000431.4(MVK):c.349C>T (p.Leu117=) rs374204972 0.00004
NM_000431.4(MVK):c.681G>A (p.Ser227=) rs764412001 0.00004
NM_000431.4(MVK):c.78+7_78+10del rs771523264 0.00004
NM_000431.4(MVK):c.864G>A (p.Pro288=) rs149708247 0.00004
NM_000431.4(MVK):c.372-9G>A rs1325994522 0.00003
NM_000431.4(MVK):c.60T>C (p.His20=) rs104895335 0.00003
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_000431.4(MVK):c.78+11G>A rs754766145 0.00003
NM_000431.4(MVK):c.999C>T (p.Gly333=) rs147904100 0.00003
NM_000431.4(MVK):c.1040-10C>T rs374344390 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.615T>C (p.Asn205=) rs201069079 0.00002
NM_000431.4(MVK):c.677+18C>T rs768375091 0.00002
NM_000431.4(MVK):c.747C>T (p.Gly249=) rs144788669 0.00002
NM_000431.4(MVK):c.78+8G>A rs766391278 0.00002
NM_000431.4(MVK):c.927C>T (p.Gly309=) rs762580578 0.00002
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357 0.00001
NM_000431.4(MVK):c.1040-4G>A rs748756524 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000431.4(MVK):c.1125C>T (p.Pro375=) rs943435428 0.00001
NM_000431.4(MVK):c.1134C>T (p.Ser378=) rs1885921145 0.00001
NM_000431.4(MVK):c.1188C>T (p.Leu396=) rs1885924156 0.00001
NM_000431.4(MVK):c.132C>T (p.His44=) rs916712126 0.00001
NM_000431.4(MVK):c.18A>G (p.Leu6=) rs1474470230 0.00001
NM_000431.4(MVK):c.19C>T (p.Leu7=) rs1166007579 0.00001
NM_000431.4(MVK):c.210G>T (p.Leu70=) rs199811011 0.00001
NM_000431.4(MVK):c.216A>G (p.Thr72=) rs758432894 0.00001
NM_000431.4(MVK):c.371+12G>A rs1322575575 0.00001
NM_000431.4(MVK):c.371+14C>G rs1885142481 0.00001
NM_000431.4(MVK):c.371+9G>A rs551460898 0.00001
NM_000431.4(MVK):c.423G>A (p.Ala141=) rs756068705 0.00001
NM_000431.4(MVK):c.438C>T (p.Ser146=) rs777499296 0.00001
NM_000431.4(MVK):c.483C>T (p.Cys161=) rs777886684 0.00001
NM_000431.4(MVK):c.512G>A (p.Gly171Glu) rs753599820 0.00001
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221 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.603C>T (p.Ser201=) rs775935897 0.00001
NM_000431.4(MVK):c.624C>T (p.Ser208=) rs879254114 0.00001
NM_000431.4(MVK):c.729C>G (p.Thr243=) rs755230199 0.00001
NM_000431.4(MVK):c.819G>A (p.Leu273=) rs876661134 0.00001
NM_000431.4(MVK):c.921C>T (p.Ala307=) rs201799491 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.1008T>C (p.Gly336=)
NM_000431.4(MVK):c.1029C>T (p.Leu343=)
NM_000431.4(MVK):c.1039+7dup
NM_000431.4(MVK):c.1039+8G>A
NM_000431.4(MVK):c.1039+8G>C rs765989100
NM_000431.4(MVK):c.1040-15C>T
NM_000431.4(MVK):c.1040-19C>T
NM_000431.4(MVK):c.1040-5C>T rs150276185
NM_000431.4(MVK):c.1042C>T (p.Leu348=)
NM_000431.4(MVK):c.1059G>A (p.Val353=) rs2136257119
NM_000431.4(MVK):c.1062G>A (p.Glu354=)
NM_000431.4(MVK):c.1068G>A (p.Thr356=)
NM_000431.4(MVK):c.1071G>A (p.Lys357=)
NM_000431.4(MVK):c.1078C>T (p.Leu360=)
NM_000431.4(MVK):c.1092C>T (p.Gly364=)
NM_000431.4(MVK):c.1098C>T (p.Asp366=)
NM_000431.4(MVK):c.1101C>T (p.Cys367=)
NM_000431.4(MVK):c.1102T>C (p.Leu368=)
NM_000431.4(MVK):c.1110C>T (p.Thr370=) rs2136257338
NM_000431.4(MVK):c.1113C>T (p.Ser371=)
NM_000431.4(MVK):c.1122C>T (p.Ala374=)
NM_000431.4(MVK):c.1137C>T (p.Ile379=)
NM_000431.4(MVK):c.1140C>T (p.His380=)
NM_000431.4(MVK):c.1143A>C (p.Ser381=)
NM_000431.4(MVK):c.1143A>T (p.Ser381=)
NM_000431.4(MVK):c.1149C>T (p.Thr383=)
NM_000431.4(MVK):c.1161C>T (p.Ser387=)
NM_000431.4(MVK):c.1167C>T (p.Val389=)
NM_000431.4(MVK):c.1176C>A (p.Ala392=)
NM_000431.4(MVK):c.126A>G (p.Gln42=)
NM_000431.4(MVK):c.129C>A (p.Pro43=)
NM_000431.4(MVK):c.135C>T (p.Ser45=)
NM_000431.4(MVK):c.144A>G (p.Lys48=) rs2136218745
NM_000431.4(MVK):c.147G>A (p.Val49=)
NM_000431.4(MVK):c.153C>T (p.Leu51=)
NM_000431.4(MVK):c.15C>T (p.Val5=)
NM_000431.4(MVK):c.162C>T (p.Pro54=) rs2136218809
NM_000431.4(MVK):c.168T>C (p.Ile56=)
NM_000431.4(MVK):c.192G>A (p.Val64=)
NM_000431.4(MVK):c.207A>G (p.Ser69=)
NM_000431.4(MVK):c.226+17G>C
NM_000431.4(MVK):c.226+7G>A rs781670680
NM_000431.4(MVK):c.226+7G>T
NM_000431.4(MVK):c.226+9A>G
NM_000431.4(MVK):c.227-15T>C
NM_000431.4(MVK):c.227-17G>A
NM_000431.4(MVK):c.227-20C>A
NM_000431.4(MVK):c.24G>A (p.Val8=)
NM_000431.4(MVK):c.252C>A (p.Thr84=)
NM_000431.4(MVK):c.264G>C (p.Val88=)
NM_000431.4(MVK):c.279G>A (p.Glu93=) rs2136224503
NM_000431.4(MVK):c.27T>C (p.Ser9=)
NM_000431.4(MVK):c.289T>C (p.Leu97=)
NM_000431.4(MVK):c.294T>C (p.Pro98=) rs1566143735
NM_000431.4(MVK):c.300C>T (p.Asp100=)
NM_000431.4(MVK):c.318C>G (p.Arg106=)
NM_000431.4(MVK):c.319C>T (p.Leu107=)
NM_000431.4(MVK):c.321G>C (p.Leu107=)
NM_000431.4(MVK):c.330G>A (p.Leu110=)
NM_000431.4(MVK):c.336T>C (p.Phe112=)
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416
NM_000431.4(MVK):c.342C>T (p.Tyr114=)
NM_000431.4(MVK):c.345A>G (p.Leu115=) rs2136224671
NM_000431.4(MVK):c.366G>A (p.Lys122=)
NM_000431.4(MVK):c.371+19G>C
NM_000431.4(MVK):c.371+20A>T
NM_000431.4(MVK):c.371+20_371+22del
NM_000431.4(MVK):c.371+8C>A rs67886029
NM_000431.4(MVK):c.372-12G>C
NM_000431.4(MVK):c.372-14C>T
NM_000431.4(MVK):c.372-15C>T
NM_000431.4(MVK):c.372-16C>A
NM_000431.4(MVK):c.372-16C>G
NM_000431.4(MVK):c.372-18C>T
NM_000431.4(MVK):c.378G>A (p.Leu126=)
NM_000431.4(MVK):c.384C>T (p.Ser128=)
NM_000431.4(MVK):c.387G>A (p.Leu129=)
NM_000431.4(MVK):c.393C>T (p.Ile131=) rs762282184
NM_000431.4(MVK):c.417C>G (p.Pro139=) rs754441368
NM_000431.4(MVK):c.417C>T (p.Pro139=)
NM_000431.4(MVK):c.420G>A (p.Gly140=) rs2136227153
NM_000431.4(MVK):c.423G>C (p.Ala141=)
NM_000431.4(MVK):c.426C>A (p.Gly142=)
NM_000431.4(MVK):c.42C>T (p.Val14=)
NM_000431.4(MVK):c.435C>T (p.Ser145=)
NM_000431.4(MVK):c.441C>A (p.Ala147=) rs138342076
NM_000431.4(MVK):c.450G>A (p.Ser150=) rs201123232
NM_000431.4(MVK):c.450G>C (p.Ser150=) rs201123232
NM_000431.4(MVK):c.450G>T (p.Ser150=)
NM_000431.4(MVK):c.453G>T (p.Val151=)
NM_000431.4(MVK):c.457C>T (p.Leu153=)
NM_000431.4(MVK):c.459G>A (p.Leu153=)
NM_000431.4(MVK):c.477T>A (p.Thr159=)
NM_000431.4(MVK):c.486G>A (p.Glu162=)
NM_000431.4(MVK):c.501G>A (p.Pro167=)
NM_000431.4(MVK):c.504G>A (p.Leu168=) rs767075641
NM_000431.4(MVK):c.507G>A (p.Lys169=)
NM_000431.4(MVK):c.513G>A (p.Gly171=)
NM_000431.4(MVK):c.527+17C>G
NM_000431.4(MVK):c.527+17C>T
NM_000431.4(MVK):c.527+20G>A
NM_000431.4(MVK):c.527+7A>G
NM_000431.4(MVK):c.527+9G>A rs1593017698
NM_000431.4(MVK):c.528-10G>T
NM_000431.4(MVK):c.528-14A>G
NM_000431.4(MVK):c.528-15C>T rs895927591
NM_000431.4(MVK):c.528-17A>G rs1885416136
NM_000431.4(MVK):c.528-18G>A rs1885416038
NM_000431.4(MVK):c.534C>A (p.Thr178=)
NM_000431.4(MVK):c.534C>G (p.Thr178=) rs749860412
NM_000431.4(MVK):c.549G>A (p.Glu183=)
NM_000431.4(MVK):c.558C>T (p.Asn186=)
NM_000431.4(MVK):c.573A>G (p.Gln191=)
NM_000431.4(MVK):c.621C>T (p.Val207=)
NM_000431.4(MVK):c.631+16G>A
NM_000431.4(MVK):c.632-11T>C
NM_000431.4(MVK):c.632-12T>G rs1885451097
NM_000431.4(MVK):c.632-13T>C
NM_000431.4(MVK):c.632-18A>T
NM_000431.4(MVK):c.632-6C>T
NM_000431.4(MVK):c.632-8C>T
NM_000431.4(MVK):c.632-9T>C
NM_000431.4(MVK):c.63C>T (p.Ala21=)
NM_000431.4(MVK):c.651T>C (p.His217=)
NM_000431.4(MVK):c.666A>G (p.Ser222=)
NM_000431.4(MVK):c.669C>T (p.Ser223=)
NM_000431.4(MVK):c.670T>C (p.Leu224=)
NM_000431.4(MVK):c.672A>G (p.Leu224=)
NM_000431.4(MVK):c.677+11G>A
NM_000431.4(MVK):c.677+12G>A rs539146613
NM_000431.4(MVK):c.677+12G>T rs539146613
NM_000431.4(MVK):c.677+13T>G
NM_000431.4(MVK):c.677+15G>A
NM_000431.4(MVK):c.677+19A>C
NM_000431.4(MVK):c.677+7del rs2136238231
NM_000431.4(MVK):c.677+8G>T
NM_000431.4(MVK):c.677+9G>A
NM_000431.4(MVK):c.677+9G>T
NM_000431.4(MVK):c.678-15_678-13del
NM_000431.4(MVK):c.678-16C>G rs368844823
NM_000431.4(MVK):c.678-16C>T
NM_000431.4(MVK):c.678-4G>A
NM_000431.4(MVK):c.678-8C>A rs1451676951
NM_000431.4(MVK):c.690C>G (p.Leu230=)
NM_000431.4(MVK):c.699G>A (p.Leu233=)
NM_000431.4(MVK):c.705C>T (p.Thr235=)
NM_000431.4(MVK):c.717C>T (p.Val239=)
NM_000431.4(MVK):c.723C>T (p.Arg241=)
NM_000431.4(MVK):c.738T>A (p.Leu246=)
NM_000431.4(MVK):c.747C>A (p.Gly249=) rs144788669
NM_000431.4(MVK):c.762G>A (p.Leu254=)
NM_000431.4(MVK):c.768+14C>G
NM_000431.4(MVK):c.768+18C>T
NM_000431.4(MVK):c.769-10T>C
NM_000431.4(MVK):c.769-14_769-12del
NM_000431.4(MVK):c.769-18C>T
NM_000431.4(MVK):c.769-5T>A
NM_000431.4(MVK):c.769-5T>C
NM_000431.4(MVK):c.769-6dup
NM_000431.4(MVK):c.769-7T>C
NM_000431.4(MVK):c.78+10C>A
NM_000431.4(MVK):c.78+10C>T
NM_000431.4(MVK):c.78+11G>T
NM_000431.4(MVK):c.78+18C>T
NM_000431.4(MVK):c.78+19C>G
NM_000431.4(MVK):c.78+20T>C
NM_000431.4(MVK):c.78+20T>G
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.780C>T (p.Ile260=) rs34975996
NM_000431.4(MVK):c.783G>A (p.Val261=)
NM_000431.4(MVK):c.789C>A (p.Pro263=) rs146181903
NM_000431.4(MVK):c.789C>T (p.Pro263=)
NM_000431.4(MVK):c.79-11T>G
NM_000431.4(MVK):c.79-16G>A
NM_000431.4(MVK):c.79-4A>G
NM_000431.4(MVK):c.807T>C (p.Asp269=)
NM_000431.4(MVK):c.84A>G (p.Ala28=)
NM_000431.4(MVK):c.861C>A (p.Ala287=) rs774340599
NM_000431.4(MVK):c.885+15G>A
NM_000431.4(MVK):c.885+8C>T
NM_000431.4(MVK):c.886-12C>T
NM_000431.4(MVK):c.886-19A>G
NM_000431.4(MVK):c.886-19A>T rs745941736
NM_000431.4(MVK):c.886-22_886-20del
NM_000431.4(MVK):c.886-7C>T
NM_000431.4(MVK):c.888G>A (p.Glu296=) rs2136253284
NM_000431.4(MVK):c.924C>A (p.Leu308=)
NM_000431.4(MVK):c.936C>T (p.His312=) rs1212639017
NM_000431.4(MVK):c.951G>A (p.Gln317=)
NM_000431.4(MVK):c.96C>T (p.Ser32=)
NM_000431.4(MVK):c.9A>G (p.Ser3=)

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