ClinVar Miner

List of variants in gene ARSB reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
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.317G>C (p.Arg106Pro) rs150087888
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315

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