ClinVar Miner

List of variants in gene MKKS reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_018848.3(MKKS):c.*21A>G rs532973454
NM_018848.3(MKKS):c.*460T>C rs886056496
NM_018848.3(MKKS):c.-159A>G rs566532177
NM_018848.3(MKKS):c.-21C>G rs886056498
NM_018848.3(MKKS):c.-22A>C rs531656259
NM_018848.3(MKKS):c.-306A>G rs3748466
NM_018848.3(MKKS):c.-349A>G rs140884406
NM_018848.3(MKKS):c.-39A>C rs886056499
NM_018848.3(MKKS):c.-406G>C rs886056500
NM_018848.3(MKKS):c.-417-20dup rs528193828
NM_018848.3(MKKS):c.-477G>T rs886056501
NM_018848.3(MKKS):c.-481T>A rs886056502
NM_018848.3(MKKS):c.-495C>A rs536112369
NM_018848.3(MKKS):c.-496T>G rs554863155
NM_018848.3(MKKS):c.-557A>G rs145467994
NM_018848.3(MKKS):c.-562C>T rs886056503
NM_018848.3(MKKS):c.-58T>C rs114068950
NM_018848.3(MKKS):c.-649+6T>G rs377246386
NM_018848.3(MKKS):c.-707C>T rs886056504
NM_018848.3(MKKS):c.-781del rs566962031
NM_018848.3(MKKS):c.-835A>T rs541967798
NM_018848.3(MKKS):c.1269C>T (p.His423=) rs144313303
NM_018848.3(MKKS):c.1282G>A (p.Asp428Asn) rs779416496
NM_018848.3(MKKS):c.1372G>T (p.Val458Phe)
NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_018848.3(MKKS):c.1654G>A (p.Ala552Thr)
NM_018848.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_018848.3(MKKS):c.425T>C (p.Val142Ala) rs863224773
NM_018848.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269
NM_018848.3(MKKS):c.638C>G (p.Thr213Ser) rs780570415
NM_018848.3(MKKS):c.697A>C (p.Ile233Leu) rs141201812
NM_018848.3(MKKS):c.749G>A (p.Gly250Glu)
NM_018848.3(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_018848.3(MKKS):c.874C>T (p.Leu292=) rs758645426
NM_018848.3(MKKS):c.890T>C (p.Ile297Thr)

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