ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 27 by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del) rs1565457062
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000834.5(GRIN2B):c.3646C>T (p.Arg1216Cys) rs199834850
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616

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