ClinVar Miner

List of variants reported as pathogenic for Jervell-Lange Nielsen syndrome by Biotechnology Research Center,Pasteur Institute of Iran

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000218.2(KCNQ1):c.1426_1429del (p.Met476fs) rs1554903804
NM_000218.2(KCNQ1):c.1534del (p.Ala512fs) rs1554919471
NM_000218.2(KCNQ1):c.1732+5delG rs1554920833
NM_000218.2(KCNQ1):c.733_734del (p.Gly245fs) rs1554893092

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