List of variants reported as pathogenic for spinal muscular atrophy by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_001130438.3(SPTAN1):c.3706C>T (p.Gln1236Ter)
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)	rs29001571

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