ClinVar Miner

List of variants studied for McKusick-Kaufman syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_018848.3(MKKS):c.*21A>G rs532973454
NM_018848.3(MKKS):c.*38A>G rs79940214
NM_018848.3(MKKS):c.*392T>C rs2294901
NM_018848.3(MKKS):c.*435G>A rs6108549
NM_018848.3(MKKS):c.*460T>C rs886056496
NM_018848.3(MKKS):c.*46G>T rs74703166
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.-417-13dupT 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.-781delG rs566962031
NM_018848.3(MKKS):c.-835A>T rs541967798
NM_018848.3(MKKS):c.-871_-869dupTTG rs143825746
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.1462G>A (p.Ala488Thr) rs61734546
NM_018848.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547
NM_018848.3(MKKS):c.1595G>T (p.Gly532Val) rs1545
NM_018848.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_018848.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269
NM_018848.3(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_018848.3(MKKS):c.874C>T (p.Leu292=) rs758645426
NM_170784.2(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_170784.2(MKKS):c.534C>T (p.Ile178=) rs17852625

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