ClinVar Miner

List of variants studied for electroclinical syndrome by Lifecell International Pvt. Ltd

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)

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