ClinVar Miner

List of variants in gene SKI reported as uncertain significance for not specified

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Total variants: 12
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HGVS dbSNP
NM_003036.3(SKI):c.1070G>A (p.Arg357Gln) rs200874294
NM_003036.3(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003036.3(SKI):c.1309G>A (p.Ala437Thr) rs544709718
NM_003036.3(SKI):c.1420C>G (p.Pro474Ala) rs1057518494
NM_003036.3(SKI):c.1456G>A (p.Val486Ile) rs200717031
NM_003036.3(SKI):c.1480T>A (p.Ser494Thr) rs781304969
NM_003036.3(SKI):c.1528G>A (p.Ala510Thr) rs61735580
NM_003036.3(SKI):c.2171C>T (p.Ala724Val) rs1553201577
NM_003036.3(SKI):c.436_437insCTC (p.Glu145_Leu146insPro) rs1553189924
NM_003036.3(SKI):c.464C>G (p.Ala155Gly) rs559020511
NM_003036.3(SKI):c.640A>G (p.Ser214Gly) rs139179843
NM_003036.3(SKI):c.893C>G (p.Ala298Gly) rs1233215789

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