List of variants reported as pathogenic for spinal muscular atrophy by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)	rs773690764	0.00001
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	rs796052019

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