List of variants studied for spinal muscular atrophy by Genesis Genome Database

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln)	rs199863781	0.00009
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)	rs548292999	0.00001
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)	rs201272954
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro)	rs201455550
NM_014845.6(FIG4):c.1550A>G (p.Lys517Arg)	rs1189038219

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