ClinVar Miner

List of variants in gene combination ASPA, SPATA22 reported as likely 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: 45
Download table as spreadsheet
HGVS dbSNP
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.236+1G>A rs1555538157
NM_000049.3(ASPA):c.237-1G>A rs1057517291
NM_000049.3(ASPA):c.237-1G>T rs1057517291
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.2T>C (p.Met1Thr) rs1057516879
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) rs769653717
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.527-2A>C rs778385612
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.3(ASPA):c.604G>C (p.Ala202Pro) rs147763700
NM_000049.3(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.3(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.3(ASPA):c.745-1G>A rs1555541278
NM_000049.3(ASPA):c.745-2A>G rs1057517066
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.3(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.4(ASPA):c.236+2T>C
NM_000049.4(ASPA):c.3G>T (p.Met1Ile) rs1597422213
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_001321336.1(SPATA22):c.-73-12213_-73-12212del rs786204620
NM_001321336.1(SPATA22):c.-73-12213del rs1057516962
NM_001321336.1(SPATA22):c.-73-12350del rs1555538825
NM_001321336.1(SPATA22):c.-73-14183_-73-14182dup rs1555539105
NM_001321336.1(SPATA22):c.-73-19934del rs1555539897
NM_001321336.1(SPATA22):c.-73-6793del rs767666474
NM_001321336.1(SPATA22):c.-74+14343del rs1057517260
NM_001321336.1(SPATA22):c.-74+14344del rs1057516309
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790
NM_001321336.1(SPATA22):c.-74+14436del rs1555541304
NM_001321336.1(SPATA22):c.-74+14439_-74+14440del rs1057517085
NM_001321336.1(SPATA22):c.-74+14470dup rs1555541291
NM_001321336.1(SPATA22):c.-74+19004del rs1057516315
NM_001321336.1(SPATA22):c.-74+19016_-74+19019del rs1555540674
NM_001321336.1(SPATA22):c.-74+19047_-74+19048del rs1057516498

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.