List of variants reported as uncertain significance for spinal muscular atrophy by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)	rs377518118	0.00016
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys)	rs375189134	0.00003
NM_205836.3(FBXO38):c.1796A>C (p.Glu599Ala)	rs781374639	0.00003
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)	rs779888892	0.00002
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)
NM_001003800.2(BICD2):c.2327A>C (p.Lys776Thr)	rs2131496327
NM_001077446.4(TSEN34):c.905C>T (p.Thr302Ile)
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)	rs769661232
NM_001376.5(DYNC1H1):c.13022G>C (p.Ser4341Thr)
NM_001376.5(DYNC1H1):c.2989C>T (p.Pro997Ser)
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met)	rs573382473
NM_003334.4(UBA1):c.2897A>C (p.Asn966Thr)
NM_004082.5(DCTN1):c.2969G>T (p.Arg990Leu)
NM_004082.5(DCTN1):c.3568G>T (p.Ala1190Ser)
NM_004184.4(WARS1):c.1248C>G (p.Ile416Met)
NM_005866.4(SIGMAR1):c.391G>A (p.Gly131Ser)
NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu)
NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu)
NM_181503.3(EXOSC8):c.17+5del

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