List of variants in gene ARSA reported by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	rs74315459	0.00003
NM_000487.6(ARSA):c.1200C>T (p.Phe400=)	rs1175674325
NM_000487.6(ARSA):c.1286T>C (p.Leu429Pro)	rs1460092963
NM_000487.6(ARSA):c.190T>A (p.Phe64Ile)	rs2082698085
NM_000487.6(ARSA):c.581C>A (p.Pro194His)	rs769492279
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)	rs2082680103
NM_000487.6(ARSA):c.874_883del (p.Ser292fs)	rs2082666231
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)	rs1569078754
NM_000487.6(ARSA):c.979+1G>A	rs754722529

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