ClinVar Miner

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

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Total variants: 2

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HGVS	dbSNP
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile)	rs1554066659
NM_000344.4(SMN1):c.379T>C (p.Tyr127His)

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