ClinVar Miner

List of variants reported as likely benign for developmental and epileptic encephalopathy by Revvity Omics, Revvity

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) rs759931649 0.00022
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_001365999.1(SZT2):c.546C>T (p.Phe182=) rs781292135 0.00004
NM_000812.4(GABRB1):c.618C>T (p.Ile206=)
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)

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