ClinVar Miner

List of variants in gene ARSA reported as pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470

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