List of variants studied for MRCS syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.219C>A (p.Ile73=)	rs1109748	0.10271
NM_004183.4(BEST1):c.618G>A (p.Leu206=)	rs62641693	0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)	rs74653691	0.01704
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	rs200277476	0.00016
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	rs121918286	0.00004
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg)	rs1199787091	0.00001
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)	rs281865221
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	rs281865238
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	rs372989281

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