ClinVar Miner

List of variants reported as uncertain significance for adolescent/adult-onset epilepsy syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827 0.00019
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro) rs749376467 0.00009
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354 0.00008
NM_018100.4(EFHC1):c.1A>G (p.Met1Val) rs201520866 0.00006
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) rs201543041 0.00003
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys) rs748229072 0.00001
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser) rs201129694 0.00001
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys) rs186911667 0.00001
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459

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