ClinVar Miner

List of variants in gene KIFBP studied for Shprintzen-Goldberg syndrome

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP
NC_000010.11:g.(68989259_69000424)_(69005125_69005731)del
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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