List of variants reported as uncertain significance for spinal muscular atrophy by Inherited Neuropathy Consortium Ii, University Of Miami

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001003800.2(BICD2):c.1687G>A (p.Gly563Arg)	rs916661191	0.00002
NM_006736.6(DNAJB2):c.352+1G>A	rs756614404	0.00002
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)	rs371707778	0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)	rs370531212	0.00001
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro)	rs398123032
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly)	rs398123030
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr)	rs398123029
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)	rs1554338260
NM_002047.4(GARS1):c.2065C>T (p.Arg689Cys)	rs376308368
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)	rs1554337369
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)	rs1554337974
NM_002047.4(GARS1):c.998A>G (p.Glu333Gly)	rs863224873
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)	rs730882140
NM_006736.6(DNAJB2):c.229+1G>A	rs730882139
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg)	rs398122838

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