ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=) rs35513423 0.01020
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=) rs35972647 0.00702
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224 0.00511
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_003042.4(SLC6A1):c.953+19G>A rs113968319 0.00077
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494 0.00066
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln) rs771439149 0.00006
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975 0.00004
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846 0.00003
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521 0.00003
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser) rs913833972 0.00001
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=) rs199851404 0.00001
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys) rs767099765 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln) rs763288862 0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=) rs1043525791 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_000814.6(GABRB3):c.1042A>G (p.Lys348Glu)
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001271.4(CHD2):c.625G>C (p.Asp209His)
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1485G>A (p.Trp495Ter)
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr) rs1553687887
NM_004408.4(DNM1):c.1402G>A (p.Glu468Lys)
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633

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