ClinVar Miner

List of variants reported as uncertain significance for complex neurodevelopmental disorder by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_152743.4(BRAT1):c.389T>C (p.Leu130Pro) rs1234481462 0.00001
NM_000834.5(GRIN2B):c.3470A>G (p.Glu1157Gly) rs1565453853
NM_001032221.6(STXBP1):c.1088A>T (p.Asp363Val)
NM_001037333.3(CYFIP2):c.3186C>G (p.Ile1062Met) rs747475869
NM_001040142.2(SCN2A):c.4304G>A (p.Arg1435Gln) rs1574723722
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val) rs1599396496
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu) rs762654239
NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr)
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln) rs1199275549
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) rs146418243
NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg) rs1596446980
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
NM_004171.4(SLC1A2):c.139C>G (p.Leu47Val) rs1851917611
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
NM_006186.4(NR4A2):c.1670G>C (p.Gly557Ala) rs2105591151
NM_007327.4(GRIN1):c.1184C>G (p.Ser395Cys) rs2131280889
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser) rs2083259164
NM_024757.5(EHMT1):c.1474A>G (p.Lys492Glu) rs2136274679
NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)
NM_139058.3(ARX):c.1358T>G (p.Leu453Arg) rs2147320389
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225

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