ClinVar Miner

List of variants in gene SKI reported as uncertain significance by Ambry Genetics

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Total variants: 22
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HGVS dbSNP
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772
NM_003036.4(SKI):c.1426G>A (p.Glu476Lys) rs1553200926
NM_003036.4(SKI):c.1439_1444CGGAGG[1] (p.Ala482_Glu483del) rs762410895
NM_003036.4(SKI):c.1474+1G>A rs112549942
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977
NM_003036.4(SKI):c.1871_1873AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys) rs143354709
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) rs1264586139
NM_003036.4(SKI):c.227T>C (p.Leu76Pro) rs753070477
NM_003036.4(SKI):c.240_242GCC[5] (p.Pro84dup) rs746731483
NM_003036.4(SKI):c.29G>A (p.Cys10Tyr) rs1553189820
NM_003036.4(SKI):c.311T>C (p.Val104Ala) rs886039149
NM_003036.4(SKI):c.547G>A (p.Glu183Lys) rs1290478159
NM_003036.4(SKI):c.593C>T (p.Pro198Leu) rs1371410513
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442
NM_003036.4(SKI):c.664C>G (p.His222Asp) rs1553189999
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743

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