ClinVar Miner

List of variants in gene combination ASPA, SPATA22 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000049.4(ASPA):c.432G>A (p.Lys144=)	rs754087904	0.00001
NM_000049.4(ASPA):c.634+1G>T	rs753871454	0.00001
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)	rs2073669074

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