ClinVar Miner

List of variants in gene MVK reported as not provided 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: 92
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.78+177G>A rs104895343 0.00328
NM_000431.4(MVK):c.768+23G>C rs104895347 0.00314
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000431.4(MVK):c.79-62G>A rs104895344 0.00038
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) rs104895321 0.00021
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000431.4(MVK):c.769-103C>T rs104895351 0.00006
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303 0.00005
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298 0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.37A>T (p.Lys13Ter) rs104895307 0.00002
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.748G>A (p.Val250Ile) rs104895339 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000431.4(MVK):c.*11C>T rs104895345 0.00001
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357 0.00001
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358 0.00001
NM_000431.4(MVK):c.1039+1G>T rs104895362 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.372-3C>T rs104895354 0.00001
NM_000431.4(MVK):c.447C>G (p.Tyr149Ter) rs104895299 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.632-71A>G rs104895346 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs) rs104895322 0.00001
NM_000431.4(MVK):c.737T>C (p.Leu246Pro) rs104895312 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NM_000431.1(MVK):c.-325A>T rs560451620
NM_000431.4(MVK):c.-13_78+1del rs104895309
NM_000431.4(MVK):c.104T>C (p.Leu35Ser) rs104895313
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.1132T>C (p.Ser378Pro) rs104895349
NM_000431.4(MVK):c.1151C>T (p.Ser384Phe) rs104895383
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.16_34del (p.Leu6fs) rs104895334
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.22G>C (p.Val8Leu) rs104895328
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.340_344del (p.Tyr114fs) rs104895370
NM_000431.4(MVK):c.357C>G (p.Ile119Met) rs104895341
NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del) rs104895310
NM_000431.4(MVK):c.404C>T (p.Ser135Leu) rs104895297
NM_000431.4(MVK):c.417dup (p.Gly140fs) rs104895373
NM_000431.4(MVK):c.421del (p.Ala141fs) rs104895323
NM_000431.4(MVK):c.421dup (p.Ala141fs) rs104895323
NM_000431.4(MVK):c.439G>A (p.Ala147Thr) rs104895363
NM_000431.4(MVK):c.503_512delinsAC (p.Leu168fs) rs104895375
NM_000431.4(MVK):c.516T>C (p.Asp172=) rs104895320
NM_000431.4(MVK):c.571del (p.Gln191fs) rs104895371
NM_000431.4(MVK):c.607dup (p.Val203fs) rs104895374
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.625A>G (p.Thr209Ala) rs104895302
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.678-1G>C rs104895376
NM_000431.4(MVK):c.684A>G (p.Pro228=) rs104895377
NM_000431.4(MVK):c.701T>C (p.Leu234Pro) rs104895365
NM_000431.4(MVK):c.728C>T (p.Thr243Ile) rs104895314
NM_000431.4(MVK):c.75C>T (p.Gly25=) rs104895330
NM_000431.4(MVK):c.769-7dup rs1555279054
NM_000431.4(MVK):c.78+2del rs104895378
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)
NM_000431.4(MVK):c.815C>T (p.Ser272Phe) rs104895318
NM_000431.4(MVK):c.86del (p.Leu29fs) rs104895381
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
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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