ClinVar Miner

List of variants reported as likely pathogenic for atrial septal defect 7 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu) rs2113901956
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro) rs2113901873
NM_004387.4(NKX2-5):c.668del (p.Leu223fs) rs1581108237
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter) rs1761346424

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