ClinVar Miner

List of variants reported as likely pathogenic for Infantile-onset ascending hereditary spastic paralysis

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro) rs1355321952 0.00001
NM_020919.4(ALS2):c.4004+1G>A rs1690335308 0.00001
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170
NM_020919.4(ALS2):c.1114-1G>A rs2106080813
NM_020919.4(ALS2):c.1250C>A (p.Ser417Ter)
NM_020919.4(ALS2):c.1471+1G>A rs1693462968
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg) rs1553513641
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) rs763455928
NM_020919.4(ALS2):c.1816-1G>A rs1060503672
NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter) rs863225294
NM_020919.4(ALS2):c.2842-2A>G rs2106009582
NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro) rs1691183538
NM_020919.4(ALS2):c.3248+1G>C
NM_020919.4(ALS2):c.3248+1G>T rs2106005949
NM_020919.4(ALS2):c.3348-1G>A rs2106001462
NM_020919.4(ALS2):c.3513-2A>T
NM_020919.4(ALS2):c.3516_3517delinsT (p.Glu1173fs)
NM_020919.4(ALS2):c.3624+1G>A rs2105998730
NM_020919.4(ALS2):c.3703-2A>G rs1690532210
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)
NM_020919.4(ALS2):c.4123-2A>G
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_020919.4(ALS2):c.4403+2T>A
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.4838+1G>A

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