ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 46 by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser) rs375048004 0.00006
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg) rs1229429201 0.00004
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser) rs900615101 0.00002
NM_000836.4(GRIN2D):c.1085+13G>A rs956727278 0.00001
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr) rs759019629 0.00001
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala) rs1971296612
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val) rs753854352

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