ClinVar Miner

List of variants in gene ARSB reported by Mendelics

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter) rs2112530498
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.899-5T>C rs1172834965
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile) rs2112211996

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