ClinVar Miner

List of variants reported as pathogenic for Kugelberg-Welander disease by OMIM

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Total variants: 13
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HGVS dbSNP
NM_000344.3(SMN1):c.131A>T (p.Asp44Val) rs104893931
NM_000344.3(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.3(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.3(SMN1):c.388T>C (p.Tyr130His) rs397514518
NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys) rs397514517
NM_000344.3(SMN1):c.5C>G (p.Ala2Gly) rs1554066397
NM_000344.3(SMN1):c.784A>G (p.Ser262Gly) rs104893932
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_022874.2(SMN1):c.397_398AG[1] (p.Glu134fs) rs77668214
SMN1, DEL
SMN1, EX8DEL
SMN1, IVS7DS, T-G, +6

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