ClinVar Miner

List of variants in gene ROBO4 reported as likely pathogenic for congenital anomaly of the great arteries

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln) rs1565326476
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) rs755569942
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) rs138111911
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) rs1565322176
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) rs138370967
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) rs150700978
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) rs779392207
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) rs755747435

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