ClinVar Miner

List of variants studied for electroclinical syndrome by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) rs1586800133

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