ClinVar Miner

List of variants studied for electroclinical syndrome by Pediatric Department, Xiangya Hospital, Central South University

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2211C>A (p.Tyr737Ter)
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.401G>C (p.Arg134Pro)
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493

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