ClinVar Miner

List of variants in gene ARSA reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000487.6(ARSA):c.-131G>A rs551316995 0.00061
NM_000487.6(ARSA):c.*103C>T rs146160737 0.00060
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr) rs145157196 0.00040
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983 0.00021
NM_000487.6(ARSA):c.228C>T (p.Ala76=) rs371930403 0.00006
NM_000487.6(ARSA):c.1332G>T (p.Leu444=) rs540031338 0.00003
NM_000487.6(ARSA):c.224+8G>A rs775536824 0.00001
NM_000487.6(ARSA):c.466-18G>A rs542689643 0.00001
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000487.6(ARSA):c.*102C>T
NM_000487.6(ARSA):c.1108-29C>T
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.54C>T (p.Ala18=) rs2146728830

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