ClinVar Miner

List of variants studied 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: 21
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HGVS dbSNP
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001242897.2(DEPDC5):c.3396+10C>A rs755463750
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.639C>G (p.Pro213=) rs146073498
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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