ClinVar Miner

List of variants in gene CTSD reported as benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
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.353-12C>T rs141523461
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.828-17G>A rs78735768
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946

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