ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as not provided for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys) rs121918628
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His) rs121918633
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys) rs756845310

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