ClinVar Miner

List of variants in gene MKKS reported as likely benign for McKusick-Kaufman syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
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.*46G>T rs74703166
NM_018848.3(MKKS):c.-871_-869dupTTG rs143825746
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.1553G>A (p.Arg518His) rs149051148
NM_018848.3(MKKS):c.1595G>T (p.Gly532Val) rs1545
NM_170784.2(MKKS):c.534C>T (p.Ile178=) rs17852625

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