List of variants reported as pathogenic for Werdnig-Hoffmann disease by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)	rs104893935
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)	rs104893933
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)	rs77668214
NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)	rs104893934
NM_000344.4(SMN1):c.439_443del (p.Glu147fs)	rs75991011
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs)	rs1561500847
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)	rs104893922
NM_000344.4(SMN1):c.836G>T (p.Gly279Val)	rs76163360

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