List of variants reported as uncertain significance for Marfan syndrome by Blueprint Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)	rs200325397	0.00006
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)	rs369196744	0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	rs567909904	0.00005
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)	rs730880062	0.00004
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)	rs767252151	0.00003
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)	rs869025374	0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)	rs587782945	0.00001
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)	rs869025406
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)	rs869025407
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly)	rs869025409
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val)	rs869025410
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)	rs863223502
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala)	rs869025429

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