ClinVar Miner

List of variants in gene combination ASPA, SPATA22 reported as pathogenic for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000017.11:g.(?_3489225)_(3499098_?)del
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.503G>A (p.Arg168His) rs770706390
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.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.4(ASPA):c.147dup (p.Pro50fs)
NM_000049.4(ASPA):c.309dup (p.Asp104fs)
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_001321336.1(SPATA22):c.-73-6832T>C rs104894551
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790
NM_001321336.1(SPATA22):c.-74+19005T>C rs104894550
NM_001321336.1(SPATA22):c.-74+19043G>T rs104894549

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