List of variants in gene ARSA reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000487.6(ARSA):c.465+1G>A	rs80338815	0.00046
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	rs28940893	0.00037
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	rs74315457	0.00029
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)	rs74315467	0.00006
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)	rs74315458	0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	rs74315456	0.00004
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	rs761860059	0.00002
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	rs74315479	0.00001
NM_000487.6(ARSA):c.1210+1G>A	rs80338820	0.00001
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)	rs398123414	0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His)	rs199476366	0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His)	rs80338819	0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	rs199476349	0.00001
NM_000487.6(ARSA):c.1108-2A>G	rs398123411
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	rs74315476
NM_000487.6(ARSA):c.1125_1126del (p.Phe376fs)	rs398123412
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)	rs80338823
NM_000487.6(ARSA):c.302del (p.Gly101fs)	rs761606317
NM_000487.6(ARSA):c.34del (p.Ala12fs)	rs398123415
NM_000487.6(ARSA):c.583del (p.Trp195fs)	rs398123416
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	rs74315471
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)	rs199476389
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)	rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)	rs398123419

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