ClinVar Miner

List of variants in gene MVK reported as pathogenic 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: 60
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
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.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 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.790C>T (p.Leu264Phe) rs104895315 0.00003
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser) rs971159663 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 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.58C>A (p.His20Asn) rs11544299 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.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs) rs104895322 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NC_000012.11:g.(?_110013783)_(110013970_?)del
NC_000012.11:g.(?_110028556)_(110029182_?)del
NC_000012.11:g.(?_110032813)_(110034382_?)del
NC_000012.11:g.(?_110032813)_(110034402_?)del
NM_000431.4(MVK):c.1063del (p.Ala355fs)
NM_000431.4(MVK):c.1072C>T (p.Gln358Ter)
NM_000431.4(MVK):c.1090_1091del (p.Gly364fs)
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.1A>C (p.Met1Leu)
NM_000431.4(MVK):c.207_208del (p.Leu70fs)
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.345dup (p.Tyr116fs)
NM_000431.4(MVK):c.349_350del (p.Leu117fs) rs1593015642
NM_000431.4(MVK):c.386_422del (p.Leu129fs)
NM_000431.4(MVK):c.395del (p.Val132fs)
NM_000431.4(MVK):c.417del (p.Ala141fs)
NM_000431.4(MVK):c.421dup (p.Ala141fs) rs104895323
NM_000431.4(MVK):c.46_49del (p.Leu16fs)
NM_000431.4(MVK):c.481_482del (p.Cys161fs)
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.545T>A (p.Leu182Ter) rs1566147222
NM_000431.4(MVK):c.605dup (p.Val203fs) rs2136236945
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.621_630del (p.Ser208fs)
NM_000431.4(MVK):c.629G>A (p.Trp210Ter)
NM_000431.4(MVK):c.630G>A (p.Trp210Ter) rs1593021917
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.661_668dup (p.Leu224fs)
NM_000431.4(MVK):c.664del (p.Ser222fs)
NM_000431.4(MVK):c.671T>G (p.Leu224Ter)
NM_000431.4(MVK):c.712A>T (p.Lys238Ter)
NM_000431.4(MVK):c.790dup (p.Leu264fs)
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000431.4(MVK):c.976G>A (p.Gly326Arg) rs104895308
NM_000431.4(MVK):c.976G>T (p.Gly326Ter)
NM_000431.4(MVK):c.987C>G (p.Ser329Arg) rs104895326

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