List of variants in gene ALS2 reported as uncertain significance for Hereditary spastic paraplegia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	rs190369242	0.00095
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	rs202219507	0.00061
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)	rs200706696	0.00055
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)	rs201161419	0.00036
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)	rs367640165	0.00026
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)	rs375742430	0.00017
NM_020919.4(ALS2):c.2979+8T>C	rs373602123	0.00017
NM_020919.4(ALS2):c.1578A>G (p.Thr526=)	rs147284131	0.00016
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)	rs61745503	0.00012
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)	rs551822626	0.00012
NM_020919.4(ALS2):c.366G>A (p.Gln122=)	rs775483404	0.00008
NM_020919.4(ALS2):c.2712G>A (p.Thr904=)	rs201200488	0.00006
NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=)	rs764925739	0.00006
NM_020919.4(ALS2):c.725T>C (p.Met242Thr)	rs200733209	0.00006
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys)	rs112869526	0.00005
NM_020919.4(ALS2):c.2282A>G (p.His761Arg)	rs370377488	0.00004
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp)	rs769268310	0.00003
NM_020919.4(ALS2):c.2735G>A (p.Arg912His)	rs374156359	0.00003
NM_020919.4(ALS2):c.4831C>T (p.Arg1611Trp)	rs779186036	0.00002
NM_020919.4(ALS2):c.1403T>C (p.Val468Ala)	rs751794543	0.00001
NM_020919.4(ALS2):c.155A>G (p.His52Arg)	rs1694137525	0.00001
NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly)	rs773125812	0.00001
NM_020919.4(ALS2):c.2912+8C>T	rs528131651	0.00001
NM_020919.4(ALS2):c.3703-7T>C	rs201333167	0.00001
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)	rs761291489	0.00001
NM_020919.4(ALS2):c.4692A>G (p.Thr1564=)	rs532630245	0.00001
NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe)	rs370296035	0.00001
NM_020919.4(ALS2):c.853A>G (p.Arg285Gly)	rs778865969	0.00001
NM_020919.4(ALS2):c.1145_1150del (p.His382_Ser383del)	rs750812960
NM_020919.4(ALS2):c.1359G>C (p.Gln453His)	rs796181791
NM_020919.4(ALS2):c.2583A>G (p.Ala861=)	rs1260262428
NM_020919.4(ALS2):c.802G>A (p.Ala268Thr)	rs2106088370

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