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

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000487.6(ARSA):c.869G>A (p.Arg290His)	rs199476355	0.00011
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)	rs755635209	0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)	rs74315468	0.00003
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	rs74315479	0.00001
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)	rs867538940	0.00001
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)	rs1313802305	0.00001
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)	rs777431148	0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)	rs199476382	0.00001
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly)	rs2146717703
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)	rs199476392
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	rs199476375
NM_000487.6(ARSA):c.926A>T (p.Glu309Val)	rs1085308016

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