List of variants reported as pathogenic for autosomal recessive distal spinal muscular atrophy 1 by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)	rs137852667	0.00004
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)	rs137852665	0.00001
NM_002180.3(IGHMBP2):c.2611+1G>T	rs786205090	0.00001
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)	rs137852669	0.00001
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu)	rs137852670
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)	rs137852668
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)	rs137852666
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs)	rs786205089

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