ClinVar Miner

List of variants in gene ARSB reported by GeneDx

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Gene type:
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Total variants: 20
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HGVS dbSNP
NC_000005.9:g.78282670G>A rs163125
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.1142+233C>T rs10039384
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.200T>A (p.Ile67Asn) rs1064793026
NM_000046.5(ARSB):c.313-286del rs34055862
NM_000046.5(ARSB):c.313-77G>A rs918581
NM_000046.5(ARSB):c.313-81G>A rs918580
NM_000046.5(ARSB):c.317G>C (p.Arg106Pro) rs150087888
NM_000046.5(ARSB):c.499+145G>C rs61216659
NM_000046.5(ARSB):c.499+160A>G rs55882246
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102
NM_000046.5(ARSB):c.690+271T>G rs7730261
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.899-200A>G rs180049
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315

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