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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter)	rs1557770517	0.00001
NM_022834.5(VWA1):c.1169_1217del (p.Leu390fs)
NM_022834.5(VWA1):c.161G>C (p.Arg54Pro)
NM_022834.5(VWA1):c.558C>T (p.Ala186=)
NM_022834.5(VWA1):c.662dup (p.Glu222fs)

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