ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) rs1564854729
NM_000726.4(CACNB4):c.610del (p.Gln204fs) rs1057518688
NM_000746.6(CHRNA7):c.241-1G>A rs1566846736
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val) rs1567329011
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) rs1564596167
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_153033.4(KCTD7):c.458G>A (p.Arg153His)
NM_198859.4(PRICKLE2):c.380del (p.Gly127fs) rs797045065

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