ClinVar Miner

List of variants studied for electroclinical syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs) rs1555952078
NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs) rs1555954752
NM_001323289.2(CDKL5):c.99+1G>T rs267608421

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