List of variants in gene ARSA reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 18

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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.1010A>T (p.Asp337Val)	rs74315475	0.00006
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	rs74315456	0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)	rs199476360	0.00004
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	rs74315459	0.00003
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	rs761860059	0.00002
NM_000487.6(ARSA):c.1210+1G>A	rs80338820	0.00001
NM_000487.6(ARSA):c.684+1G>A	rs146371968	0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	rs199476349	0.00001
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	rs74315476
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)	rs74315478
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)	rs765905826
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)	rs74315455
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	rs199476375
NM_000487.6(ARSA):c.583del (p.Trp195fs)	rs398123416
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	rs551472773

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