ClinVar Miner

List of variants in gene SKI reported as likely pathogenic for Shprintzen-Goldberg syndrome

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Gene type:
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Total variants: 6
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NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.4(SKI):c.68A>C (p.Gln23Pro) rs1557806222

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