List of variants studied for Shprintzen-Goldberg syndrome by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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.103C>T (p.Pro35Ser)	rs397514590
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.94C>G (p.Leu32Val)	rs387907304

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