ClinVar Miner

List of variants reported as likely benign for developmental and epileptic encephalopathy by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_004204.5(PIGQ):c.350C>T (p.Ala117Val) rs111753944 0.00508
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00362
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_152743.4(BRAT1):c.431G>A (p.Gly144Asp) rs199745325 0.00036
NM_173354.5(SIK1):c.1246-5C>T rs371389145 0.00019
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=) rs147929770 0.00008
NM_001365999.1(SZT2):c.8556A>C (p.Thr2852=) rs201027552 0.00006
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln) rs76962261 0.00004
NM_000814.6(GABRB3):c.969G>A (p.Glu323=) rs77608123 0.00003
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=) rs769899113 0.00003

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