ClinVar Miner

List of variants in gene combination ASPA, SPATA22 reported as pathogenic for Canavan disease

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_000049.3(ASPA):c.147dup (p.Pro50fs)
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.550C>T (p.Gln184Ter)
NM_000049.3(ASPA):c.634+1G>T rs753871454
NM_000049.3(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000049.3(ASPA):c.692A>G (p.Tyr231Cys) rs104894550
NM_000049.3(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.3(ASPA):c.71A>G (p.Glu24Gly) rs104894551
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.3(ASPA):c.914C>A (p.Ala305Glu) rs28940574

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