ClinVar Miner

List of variants in gene SMN1 reported as pathogenic by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 17
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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.835-3C>T rs772466166 0.00001
NM_000344.3(SMN1):c.274_284del11 rs1561499612
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly) rs104893935
NM_000344.4(SMN1):c.399_402del (p.Glu134fs) rs77668214
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.4(SMN1):c.48_55dup (p.Val19fs) rs1561498701
NM_000344.4(SMN1):c.510_511del (p.Ser170fs) rs1561499720
NM_000344.4(SMN1):c.570G>A (p.Trp190Ter) rs1561499737
NM_000344.4(SMN1):c.584del (p.Pro195fs) rs1561499748
NM_000344.4(SMN1):c.724-2A>G rs1561500842
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)
NM_000344.4(SMN1):c.835-2A>G rs141760116
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950

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