List of variants reported as likely pathogenic for Kugelberg-Welander disease

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000344.4(SMN1):c.347T>C (p.Ile116Thr)	rs2532112594
NM_000344.4(SMN1):c.379T>C (p.Tyr127His)	rs1749441633
NM_000344.4(SMN1):c.766G>T (p.Asp256Tyr)	rs2532126303
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	rs1554066659
NM_000344.4(SMN1):c.808A>G (p.Ser270Gly)	rs2532126565

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