ClinVar Miner

List of variants in gene MVK studied for Hyperimmunoglobulin D with periodic fever

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Total variants: 142
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HGVS dbSNP
NM_000431.3(MVK):c.417dupC (p.Gly140Argfs) rs104895373
NM_000431.3(MVK):c.421dupG (p.Ala141Glyfs) rs104895323
NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs) rs104895322
NM_000431.4(MVK):c.*11C>T rs104895345
NM_000431.4(MVK):c.*125G>T
NM_000431.4(MVK):c.*308G>A rs886048935
NM_000431.4(MVK):c.*332C>T rs574536495
NM_000431.4(MVK):c.*333G>A
NM_000431.4(MVK):c.*358G>A
NM_000431.4(MVK):c.*412C>T rs192656516
NM_000431.4(MVK):c.*431C>T rs72648044
NM_000431.4(MVK):c.*468C>T rs768794506
NM_000431.4(MVK):c.*486C>T
NM_000431.4(MVK):c.*550G>A rs886048936
NM_000431.4(MVK):c.*566G>C
NM_000431.4(MVK):c.*571G>A
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.*601G>A rs536969522
NM_000431.4(MVK):c.*660G>A rs142493947
NM_000431.4(MVK):c.*75T>G rs138924471
NM_000431.4(MVK):c.*90G>A
NM_000431.4(MVK):c.-13_78+1del rs104895309
NM_000431.4(MVK):c.-15+11G>A rs192335177
NM_000431.4(MVK):c.-15G>A rs567278499
NM_000431.4(MVK):c.-33G>A rs886048930
NM_000431.4(MVK):c.-55G>C rs886048929
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358
NM_000431.4(MVK):c.1039+1G>T rs104895362
NM_000431.4(MVK):c.104T>C (p.Leu35Ser) rs104895313
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342
NM_000431.4(MVK):c.1097_1100del (p.Asp366fs) rs104895372
NM_000431.4(MVK):c.1100G>C (p.Cys367Ser) rs104895359
NM_000431.4(MVK):c.1127G>T (p.Gly376Val) rs104895340
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.1132T>C (p.Ser378Pro) rs104895349
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324
NM_000431.4(MVK):c.1151C>T (p.Ser384Phe) rs104895383
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934
NM_000431.4(MVK):c.116T>C (p.Leu39Pro) rs104895296
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653
NM_000431.4(MVK):c.16_34del (p.Leu6fs) rs104895334
NM_000431.4(MVK):c.178C>T (p.Arg60Trp)
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.226+4A>G rs145732290
NM_000431.4(MVK):c.22G>C (p.Val8Leu) rs104895328
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.258G>A (p.Glu86=)
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr) rs886048931
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609
NM_000431.4(MVK):c.33G>A (p.Pro11=)
NM_000431.4(MVK):c.340_344del (p.Tyr114fs) rs104895370
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382
NM_000431.4(MVK):c.357C>G (p.Ile119Met) rs104895341
NM_000431.4(MVK):c.371+13T>C rs201201471
NM_000431.4(MVK):c.371+8C>T rs67886029
NM_000431.4(MVK):c.372-3C>T rs104895354
NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del) rs104895310
NM_000431.4(MVK):c.37A>C (p.Lys13Gln)
NM_000431.4(MVK):c.37A>T (p.Lys13Ter) rs104895307
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336
NM_000431.4(MVK):c.404C>T (p.Ser135Leu) rs104895297
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092
NM_000431.4(MVK):c.421del (p.Ala141fs) rs104895323
NM_000431.4(MVK):c.439G>A (p.Ala147Thr) rs104895363
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298
NM_000431.4(MVK):c.447C>G (p.Tyr149Ter) rs104895299
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300
NM_000431.4(MVK):c.503_508del (p.Leu168_Asp170delinsHis)
NM_000431.4(MVK):c.503_512delinsAC (p.Leu168fs) rs104895375
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337
NM_000431.4(MVK):c.516T>C (p.Asp172=) rs104895320
NM_000431.4(MVK):c.527+10G>A rs368909134
NM_000431.4(MVK):c.527+13C>A rs199670546
NM_000431.4(MVK):c.527+8T>C rs377547988
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311
NM_000431.4(MVK):c.571del (p.Gln191fs) rs104895371
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329
NM_000431.4(MVK):c.598C>T (p.Pro200Ser) rs886048932
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301
NM_000431.4(MVK):c.607dup (p.Val203fs) rs104895374
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364
NM_000431.4(MVK):c.625A>G (p.Thr209Ala) rs104895302
NM_000431.4(MVK):c.630G>A (p.Trp210Ter) rs1593021917
NM_000431.4(MVK):c.632-71A>G rs104895346
NM_000431.4(MVK):c.632G>A (p.Gly211Glu) rs104895325
NM_000431.4(MVK):c.632G>C (p.Gly211Ala) rs104895325
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303
NM_000431.4(MVK):c.678-1G>C rs104895376
NM_000431.4(MVK):c.684A>G (p.Pro228=) rs104895377
NM_000431.4(MVK):c.689_690del (p.Leu230fs) rs1593026935
NM_000431.4(MVK):c.701T>C (p.Leu234Pro) rs104895365
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366
NM_000431.4(MVK):c.728C>T (p.Thr243Ile) rs104895314
NM_000431.4(MVK):c.737T>C (p.Leu246Pro) rs104895312
NM_000431.4(MVK):c.748G>A (p.Val250Ile) rs104895339
NM_000431.4(MVK):c.75C>T (p.Gly25=) rs104895330
NM_000431.4(MVK):c.768+23G>C rs104895347
NM_000431.4(MVK):c.769-103C>T rs104895351
NM_000431.4(MVK):c.769-7T>G rs104895331
NM_000431.4(MVK):c.769-7dup rs1555279054
NM_000431.4(MVK):c.78+177G>A rs104895343
NM_000431.4(MVK):c.78+2del rs104895378
NM_000431.4(MVK):c.78+8G>A rs766391278
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.79-62G>A rs104895344
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315
NM_000431.4(MVK):c.794T>C (p.Leu265Pro) rs104895316
NM_000431.4(MVK):c.794T>G (p.Leu265Arg) rs104895316
NM_000431.4(MVK):c.79_226del (p.Val27Serfs) rs104895327
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304
NM_000431.4(MVK):c.815C>T (p.Ser272Phe) rs104895318
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) rs104895321
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355
NM_000431.4(MVK):c.86del (p.Leu29fs) rs104895381
NM_000431.4(MVK):c.870G>T (p.Gln290His)
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319
NM_000431.4(MVK):c.965C>G (p.Thr322Ser) rs104895367
NM_000431.4(MVK):c.976G>A (p.Gly326Arg) rs104895308
NM_000431.4(MVK):c.986G>A (p.Ser329Asn) rs104895350
NM_000431.4(MVK):c.987C>A (p.Ser329Arg) rs104895326

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