ClinVar Miner

List of variants reported as pathogenic for congenital anomaly of cardiovascular system by Stankiewicz Research Laboratory, Baylor College of Medicine

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs) rs1597292524
NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser) rs1597292620
NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala) rs1597291206
NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser) rs1597291206
NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter) rs1597291235
NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn) rs1597291255
NM_001451.3(FOXF1):c.238_239del (p.Ser80fs) rs1969549826
NM_001451.3(FOXF1):c.294C>A (p.His98Gln) rs1597291300
NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu) rs1969550671
NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu) rs1597291318
NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter) rs1481006723
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs) rs1597291554
NM_001451.3(FOXF1):c.849_850del (p.Ile285fs) rs1597291710
NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter) rs1597291719
NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer) rs1597291722
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs) rs1597291767
NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter) rs376766270

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