List of variants reported as pathogenic for Neuronopathy, distal hereditary motor, autosomal recessive 7

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_022834.5(VWA1):c.252del (p.Glu85fs)	rs767263669
NM_022834.5(VWA1):c.462del (p.Met155fs)
NM_022834.5(VWA1):c.62_71del (p.Gly21fs)	rs749383814
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	rs749383814
NM_022834.5(VWA1):c.879del (p.Arg293fs)	rs746212067
NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	rs762573767

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