ClinVar Miner

List of variants in gene ARSB reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.*1635G>A rs35597782 0.00552
NM_000046.5(ARSB):c.*2408A>G rs13354324 0.00491
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980 0.00039
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000046.5(ARSB):c.1336+2T>G rs768012515 0.00003
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.645C>T (p.Phe215=)
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320

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