List of variants reported as pathogenic for Goldberg-Shprintzen syndrome by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter)	rs730882150	0.00006
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.605_606del (p.Arg202fs)	rs730882151

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