List of variants reported as pathogenic by MNM Diagnostics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.22213388_22345581del
NC_000023.11:g.22243338_22690207del
NM_000138.5(FBN1):c.4878del (p.Phe1626fs)	rs2043314537
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	rs61750173
NM_000444.6(PHEX):c.208_212del (p.Val70fs)	rs1927568587
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	rs80338831
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	rs876657651
NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter)	rs2097991272
NM_153717.3(EVC):c.37_38del (p.Arg13fs)	rs1722986802

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