ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.101G>A (p.Gly34Asp) rs387907305
NM_003036.4(SKI):c.101G>T (p.Gly34Val) rs387907305
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del) rs398122914
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del) rs398122889
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.349G>C (p.Gly117Arg) rs869312901
NM_003036.4(SKI):c.62T>G (p.Leu21Arg) rs869312902
NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del) rs1553189986
NM_003036.4(SKI):c.94C>G (p.Leu32Val) rs387907304

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