ClinVar Miner

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

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_003036.3(SKI):c.1254C>T (p.Asn418=) rs536126761
NM_003036.3(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.3(SKI):c.1440G>A (p.Ser480=) rs185754530
NM_003036.3(SKI):c.1446G>A (p.Ala482=) rs114345135
NM_003036.3(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.3(SKI):c.1851G>A (p.Glu617=) rs146789646
NM_003036.3(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.3(SKI):c.1974C>T (p.Arg658=) rs201895384
NM_003036.3(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.3(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.3(SKI):c.915C>G (p.Asp305Glu) rs900879745
NM_003036.3(SKI):c.970-7A>G rs199634070
NM_003036.3(SKI):c.99C>G (p.Gly33=) rs200019352

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