ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_003793.4(CTSF):c.843_844del (p.Ala282fs) rs1555058286
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) rs397514731
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_017882.3(CLN6):c.791_793CCT[1] (p.Ser265del) rs768422260
NM_018941.3(CLN8):c.470A>G (p.His157Arg) rs149308952
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) rs397515402

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