ClinVar Miner

List of variants reported as benign for adolescent-onset epilepsy syndrome by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.828-17G>A rs78735768
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009

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