ClinVar Miner

List of variants reported as likely pathogenic for congenital anomaly of the great arteries by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) rs1057518788
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039

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