ClinVar Miner

List of variants in gene VWA1 studied for Neuronopathy, distal hereditary motor, autosomal recessive 7

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_022834.5(VWA1):c.1005A>G (p.Pro335=) rs1892289 0.42255
NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter) rs1557770517 0.00001
NM_022834.5(VWA1):c.1121G>A (p.Gly374Glu)
NM_022834.5(VWA1):c.1169_1217del (p.Leu390fs)
NM_022834.5(VWA1):c.1275GCGCCC[3] (p.Pro431_Val432insArgPro)
NM_022834.5(VWA1):c.1312C>A (p.Pro438Thr)
NM_022834.5(VWA1):c.161G>C (p.Arg54Pro)
NM_022834.5(VWA1):c.252del (p.Glu85fs) rs767263669
NM_022834.5(VWA1):c.462del (p.Met155fs)
NM_022834.5(VWA1):c.558C>T (p.Ala186=)
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.662dup (p.Glu222fs)
NM_022834.5(VWA1):c.879del (p.Arg293fs) rs746212067
NM_022834.5(VWA1):c.94C>T (p.Arg32Ter) rs762573767

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