List of variants reported as pathogenic for spinal muscular atrophy by 3billion, Medical Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	rs1057518083
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144

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