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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)	rs137852667	0.00004
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)	rs398123028
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	rs1060502838
NM_020631.6(PLEKHG5):c.58del (p.Arg20fs)	rs1553175760
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144

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