ClinVar Miner

List of variants reported as uncertain significance for self-limited epilepsy with centrotemporal spikes by New York Genome Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.1008-22395A>T rs909654359 0.00005
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_001134407.3(GRIN2A):c.91C>T (p.Pro31Ser) rs199942034 0.00002
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611 0.00001
NM_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala) rs59975221 0.00001
NM_001134407.3(GRIN2A):c.1007+5923G>C rs2141611422
NM_001134407.3(GRIN2A):c.2870G>A (p.Gly957Glu) rs2141136377
NM_001134407.3(GRIN2A):c.3604G>C (p.Glu1202Gln) rs1555482336
NM_001134407.3(GRIN2A):c.3792G>A (p.Glu1264=) rs2141129533
NM_001134407.3(GRIN2A):c.415-89902G>A rs2141916983
NM_001134407.3(GRIN2A):c.4319C>T (p.Ser1440Phe) rs752489703

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