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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)	rs146146070	0.00044
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile)	rs773393717	0.00014
NM_015046.7(SETX):c.895C>T (p.Arg299Cys)	rs777182592	0.00002
NM_020631.6(PLEKHG5):c.2249+4C>T	rs751575330	0.00001
NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln)	rs766830490	0.00001
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	rs768823392
NM_004453.4(ETFDH):c.523_524insAGCA (p.Arg175fs)	rs1554031715
NM_004960.3(FUS):c.*2201dup	rs1555510151

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