ClinVar Miner

List of variants in gene SKI reported as benign for Shprintzen-Goldberg syndrome

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
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.1734C>T (p.Ser578=) rs117443908
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352

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