ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
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_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000744.6(CHRNA4):c.1758+14A>G rs3827020
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_004287.3(GOSR2):c.430G>T rs387906881
NM_004287.4(GOSR2):c.-12G>C rs183199
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673

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