List of variants reported as pathogenic for spinal muscular atrophy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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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_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	rs137853063	0.00006
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	rs372000714	0.00001

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