ClinVar Miner

List of variants in gene ASL, LOC129998526 studied for argininosuccinic aciduria

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.12+105C>T rs1183245 0.60874
NM_000048.4(ASL):c.12+10A>T rs746934631 0.00001
NC_000007.14:g.(?_66076062)_(66092932_?)del
NM_000048.4(ASL):c.10dup (p.Glu4fs)
NM_000048.4(ASL):c.12+11C>A
NM_000048.4(ASL):c.12+14C>T
NM_000048.4(ASL):c.12+15G>T
NM_000048.4(ASL):c.12+17G>A
NM_000048.4(ASL):c.12+20C>A
NM_000048.4(ASL):c.12+8G>A

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