List of variants reported as pathogenic for spinal muscular atrophy by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)	rs1554338260

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