ClinVar Miner

List of variants reported for Kugelberg-Welander disease by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) rs1554066397 0.00571
NM_000344.4(SMN1):c.724-2A>G rs1561500842
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)

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