ClinVar Miner

List of variants reported as uncertain significance for congenital anomaly of cardiovascular system by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn) rs759374610 0.00005
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr) rs1469698360 0.00002
NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) rs758961135 0.00001
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His) rs758751607 0.00001
NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr) rs769076001 0.00001
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter) rs748970759 0.00001
NM_000238.4(KCNH2):c.2870C>T (p.Pro957Leu) rs1800962566
NM_000335.5(SCN5A):c.4553G>A (p.Gly1518Asp) rs1322825102
NM_000891.3(KCNJ2):c.102G>T (p.Lys34Asn) rs1476737505
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe) rs1598211406

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