List of variants studied for congenital muscular dystrophy by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	rs201692549	0.00054
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)	rs199606147	0.00019
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	rs750731624
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	rs398124245
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)	rs772370177
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	rs398123555

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