ClinVar Miner

List of variants studied for Werdnig-Hoffmann disease

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_017411.4(SMN2):c.835-44A>G rs212216 0.00005
NM_000344.4(SMN1):c.840C>T (p.Phe280=) rs1164325688 0.00001
GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1
NM_000344.4(SMN1):c.*3+3A>T rs1749776954
NM_000344.4(SMN1):c.268C>T (p.Gln90Ter)
NM_000344.4(SMN1):c.280G>T (p.Val94Phe) rs1749440512
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.469C>T (p.Gln157Ter) rs1580886973
NM_000344.4(SMN1):c.490C>A (p.Gln164Lys) rs1561499713
NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del)
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.82-2548_723+515del
NM_000344.4(SMN1):c.835-2A>G rs141760116
NM_000344.4(SMN1):c.835-8_835-5delinsG
NM_000344.4(SMN1):c.836G>T (p.Gly279Val) rs76163360
NM_017411.4(SMN2):c.835-1897C>T rs1381625877

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