ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NC_000020.10:g.(?_10385875)_(10394182_?)del
NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396
NM_018848.3(MKKS):c.1225_1226del (p.Gly409fs)
NM_018848.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399
NM_018848.3(MKKS):c.172_175dup (p.Gln59fs)
NM_018848.3(MKKS):c.429_430del (p.Asp143_Phe144insTer)
NM_018848.3(MKKS):c.433_434del (p.Phe144_Ser145insTer)
NM_170784.2(MKKS):c.1334T>G (p.Leu445Ter) rs1057516054
NM_170784.2(MKKS):c.[250C>T;724G>T]

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