ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) rs150254933
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000744.6(CHRNA4):c.138C>T (p.Ser46=) rs200705061
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.6(CHRNA4):c.799C>T (p.Leu267=) rs121912256
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) rs753684298
NM_001242897.2(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) rs146579299
NM_018941.3(CLN8):c.98T>C (p.Val33Ala) rs1301388199
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) rs917893164
NM_152778.3(MFSD8):c.343G>A (p.Val115Met) rs183450731
NM_152778.3(MFSD8):c.5C>T (p.Ala2Val) rs867524398
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632

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