ClinVar Miner

List of variants in gene MKKS studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Total variants: 74
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HGVS dbSNP
MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG
NC_000020.10:g.(?_10385875)_(10394182_?)del
NM_018848.3(MKKS):c.-417-13dupT rs528193828
NM_170784.2(MKKS):c.*21A>G rs532973454
NM_170784.2(MKKS):c.*38A>G rs79940214
NM_170784.2(MKKS):c.*392T>C rs2294901
NM_170784.2(MKKS):c.*435G>A rs6108549
NM_170784.2(MKKS):c.*460T>C rs886056496
NM_170784.2(MKKS):c.*46G>T rs74703166
NM_170784.2(MKKS):c.-159A>G rs566532177
NM_170784.2(MKKS):c.-21C>G rs886056498
NM_170784.2(MKKS):c.-22A>C rs531656259
NM_170784.2(MKKS):c.-306A>G rs3748466
NM_170784.2(MKKS):c.-349A>G rs140884406
NM_170784.2(MKKS):c.-39A>C rs886056499
NM_170784.2(MKKS):c.-406G>C rs886056500
NM_170784.2(MKKS):c.-477G>T rs886056501
NM_170784.2(MKKS):c.-481T>A rs886056502
NM_170784.2(MKKS):c.-495C>A rs536112369
NM_170784.2(MKKS):c.-496T>G rs554863155
NM_170784.2(MKKS):c.-557A>G rs145467994
NM_170784.2(MKKS):c.-562C>T rs886056503
NM_170784.2(MKKS):c.-58T>C rs114068950
NM_170784.2(MKKS):c.-649+2202_-649+2204dup rs143825746
NM_170784.2(MKKS):c.-649+2238A>T rs541967798
NM_170784.2(MKKS):c.-649+2292del rs566962031
NM_170784.2(MKKS):c.-649+2366C>T rs886056504
NM_170784.2(MKKS):c.-649+2430T>G rs377246386
NM_170784.2(MKKS):c.-683_-674dup rs16996729
NM_170784.2(MKKS):c.-74G>A rs113994194
NM_170784.2(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_170784.2(MKKS):c.110A>G (p.Tyr37Cys) rs74315396
NM_170784.2(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_170784.2(MKKS):c.119C>G (p.Ser40Ter) rs753338844
NM_170784.2(MKKS):c.1235G>T (p.Cys412Phe) rs1396840386
NM_170784.2(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185
NM_170784.2(MKKS):c.1269C>T (p.His423=) rs144313303
NM_170784.2(MKKS):c.1282G>A (p.Asp428Asn) rs779416496
NM_170784.2(MKKS):c.1372G>T (p.Val458Phe)
NM_170784.2(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_170784.2(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.2(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_170784.2(MKKS):c.1549C>T (p.Arg517Cys) rs1547
NM_170784.2(MKKS):c.1553G>A (p.Arg518His) rs149051148
NM_170784.2(MKKS):c.155G>A (p.Gly52Asp) rs28937875
NM_170784.2(MKKS):c.1595G>T (p.Gly532Val) rs1545
NM_170784.2(MKKS):c.1654G>A (p.Ala552Thr)
NM_170784.2(MKKS):c.169A>G (p.Thr57Ala) rs74315399
NM_170784.2(MKKS):c.16G>A (p.Ala6Thr) rs150920905
NM_170784.2(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_170784.2(MKKS):c.172_175dup (p.Gln59fs)
NM_170784.2(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.2(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.2(MKKS):c.416G>A (p.Arg139Gln) rs145045986
NM_170784.2(MKKS):c.425T>C (p.Val142Ala) rs863224773
NM_170784.2(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_170784.2(MKKS):c.463C>T (p.Arg155Cys) rs755050269
NM_170784.2(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_170784.2(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_170784.2(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_170784.2(MKKS):c.638C>G (p.Thr213Ser) rs780570415
NM_170784.2(MKKS):c.697A>C (p.Ile233Leu) rs141201812
NM_170784.2(MKKS):c.724G>T (p.Ala242Ser) rs74315394
NM_170784.2(MKKS):c.749G>A (p.Gly250Glu)
NM_170784.2(MKKS):c.757T>C (p.Ser253Pro) rs201785599
NM_170784.2(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_170784.2(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_170784.2(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_170784.2(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_170784.2(MKKS):c.837del (p.Gly280fs)
NM_170784.2(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_170784.2(MKKS):c.874C>T (p.Leu292=) rs758645426
NM_170784.2(MKKS):c.890T>C (p.Ile297Thr)
NM_170784.2(MKKS):c.956_957CT[1] (p.Leu320fs) rs770908659

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