ClinVar Miner

List of variants reported as uncertain significance for Landau-Kleffner syndrome by Baylor Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=) rs1057522803 0.00006
NM_001134407.3(GRIN2A):c.1087G>T (p.Val363Leu) rs2043684301
NM_001134407.3(GRIN2A):c.1313A>G (p.Lys438Arg) rs2042848665
NM_001134407.3(GRIN2A):c.1516G>A (p.Val506Ile) rs368188808
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val) rs1567329011
NM_001134407.3(GRIN2A):c.2748C>G (p.Asp916Glu)
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.3230G>C (p.Ser1077Thr) rs1427368529
NM_001134407.3(GRIN2A):c.3379G>C (p.Gly1127Arg) rs1360004561
NM_001134407.3(GRIN2A):c.3896C>G (p.Pro1299Arg) rs1156972587
NM_001134407.3(GRIN2A):c.3979A>G (p.Ser1327Gly)
NM_001134407.3(GRIN2A):c.4234T>A (p.Cys1412Ser) rs1262702313
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del) rs775540481

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