ClinVar Miner

List of variants studied for Shprintzen-Goldberg syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000010.11:g.(68989259_69000424)_(69005125_69005731)del
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.94C>G (p.Leu32Val) rs387907304
NM_015634.4(KIFBP):c.250G>T (p.Glu84Ter) rs121434515
NM_015634.4(KIFBP):c.268C>T (p.Arg90Ter) rs121434514
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150
NM_015634.4(KIFBP):c.605_606del (p.Arg202fs) rs730882151

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