List of variants reported as likely pathogenic for spinal muscular atrophy by MGZ Medical Genetics Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)	rs751549678	0.00001
NM_001376.5(DYNC1H1):c.161_172del (p.50AALE[1])
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)	rs571142182
NM_006736.6(DNAJB2):c.65+1G>A
NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)

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