ClinVar Miner

List of variants in gene CITED2 studied for atrial septal defect 8

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
CITED2, 27-BP INS, NT534
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006079.5(CITED2):c.119AGC[3] (p.Gln43del)
NM_006079.5(CITED2):c.581GCGGCA[2] (p.196SG[1]) rs531316452
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala) rs1583066622

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