List of variants studied for Shprintzen-Goldberg syndrome by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)	rs201613746	0.00024
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)	rs752151031	0.00002
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)	rs775800782	0.00001
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)	rs557289756
NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)	rs1303337266
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)	rs1057520161
NM_003036.4(SKI):c.164C>T (p.Ala55Val)	rs2527576012
NM_003036.4(SKI):c.1784G>T (p.Arg595Leu)	rs2521511133
NM_003036.4(SKI):c.8C>A (p.Ala3Glu)	rs1553189801

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