ClinVar Miner

List of variants in gene SKI reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.915C>G (p.Asp305Glu) rs900879745
NM_003036.4(SKI):c.970-7A>G rs199634070

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