ClinVar Miner

List of variants in gene SKI reported by Blueprint Genetics

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Gene type:
ClinVar version:
Total variants: 6
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NM_003036.4(SKI):c.*1_*3del rs869025526
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808
NM_003036.4(SKI):c.1243G>A (p.Val415Met) rs770481744
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525

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