List of variants reported as pathogenic for MRCS syndrome

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
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.256G>A (p.Val86Met)	rs121918289
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	rs281865238
NM_004183.4(BEST1):c.704T>C (p.Val235Ala)	rs267606679
NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys)	rs121918291
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	rs28940570
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	rs372989281

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