ClinVar Miner

List of variants in gene ASL reported as likely pathogenic by Baylor Genetics

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter) rs764546937 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp) rs770167670 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp) rs138310841 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) rs201962738 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) rs754995756 0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037 0.00001
NM_000048.4(ASL):c.1062+5G>C
NM_000048.4(ASL):c.111_133del (p.Asp38fs) rs1554326267
NM_000048.4(ASL):c.1143+1G>C
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023
NM_000048.4(ASL):c.1331C>T (p.Ala444Val)
NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)
NM_000048.4(ASL):c.208-1G>T
NM_000048.4(ASL):c.226C>T (p.Gln76Ter)
NM_000048.4(ASL):c.291+1G>T rs201523601
NM_000048.4(ASL):c.29del (p.Gly10fs)
NM_000048.4(ASL):c.305dup (p.Thr103fs)
NM_000048.4(ASL):c.311C>T (p.Ala104Val)
NM_000048.4(ASL):c.329dup (p.Arg111fs)
NM_000048.4(ASL):c.434A>G (p.Asp145Gly)
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.569_573dup (p.Lys192fs)
NM_000048.4(ASL):c.603-2A>G
NM_000048.4(ASL):c.614C>T (p.Ala205Val) rs796051925
NM_000048.4(ASL):c.629del (p.Gly210fs)
NM_000048.4(ASL):c.721G>A (p.Glu241Lys)
NM_000048.4(ASL):c.803del (p.Phe268fs)
NM_000048.4(ASL):c.870del (p.Asp291fs)
NM_000048.4(ASL):c.925G>A (p.Gly309Arg) rs769506424
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)

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