ClinVar Miner

List of variants in gene SKI reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 25
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HGVS dbSNP
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1211+11G>A rs115186522
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.4(SKI):c.42C>T (p.His14=) rs543603037
NM_003036.4(SKI):c.436_437insCTC (p.Leu146_His147insPro) rs1553189924
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.4(SKI):c.970-5C>T rs755318392
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352

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