ClinVar Miner

List of variants in gene ARSA reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000487.6(ARSA):c.1227_1228del (p.Thr410fs)
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419

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