ClinVar Miner

List of variants reported as likely pathogenic for congenital heart disease by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253

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