ClinVar Miner

List of variants studied for long QT syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter) rs1598211614

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