List of variants reported as likely pathogenic for spinal muscular atrophy by Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.547+1G>A	rs1057518588	0.00001
NM_002180.3(IGHMBP2):c.1418+1G>C	rs1160978570
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)	rs879253887

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