ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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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.-58T>C rs114068950
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018848.3(MKKS):c.117C>T (p.Pro39=) rs16991547
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_018848.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905
NM_018848.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986
NM_018848.3(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_018848.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394
NM_018848.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599
NM_018848.3(MKKS):c.986-29A>T rs764266
NM_170784.3(MKKS):c.-618C>T

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