List of variants in gene DCTN1 reported as pathogenic for spinal muscular atrophy

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)	rs121909342
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg)	rs121909342
NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)	rs886039228
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)	rs67586389
NM_004082.5(DCTN1):c.279+1G>A	rs1393363759
NM_004082.5(DCTN1):c.279+1G>C	rs1393363759
NM_004082.5(DCTN1):c.279+1G>T	rs1393363759
NM_004082.5(DCTN1):c.279+2T>C
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)

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