ClinVar Miner

List of variants in gene NODAL reported as likely benign for congenital anomaly of cardiovascular system

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018055.5(NODAL):c.*677C>T rs184218697 0.00280
NM_018055.5(NODAL):c.916C>T (p.His306Tyr) rs148708629 0.00085
NM_018055.5(NODAL):c.545C>T (p.Pro182Leu) rs143239895 0.00076
NM_018055.5(NODAL):c.972G>A (p.Leu324=) rs143903715 0.00056
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707 0.00051
NM_018055.5(NODAL):c.531T>C (p.Ala177=) rs145468639 0.00016
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) rs10999334 0.00015
NM_018055.5(NODAL):c.662G>A (p.Arg221Gln) rs138681813 0.00012
NM_018055.5(NODAL):c.1020C>T (p.Ile340=) rs142286836 0.00011
NM_018055.5(NODAL):c.9C>T (p.Ala3=) rs376002393 0.00009
NM_018055.5(NODAL):c.281G>A (p.Arg94Gln) rs146018217 0.00007
NM_018055.5(NODAL):c.672G>A (p.Glu224=) rs745724942 0.00006
NM_018055.5(NODAL):c.924C>T (p.Val308=) rs188029435 0.00006
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_018055.5(NODAL):c.473C>T (p.Pro158Leu) rs772585502 0.00001
NM_018055.5(NODAL):c.963G>A (p.Leu321=) rs772060498 0.00001
NM_018055.5(NODAL):c.152C>T (p.Pro51Leu)
NM_018055.5(NODAL):c.222G>A (p.Thr74=)
NM_018055.5(NODAL):c.291G>T (p.Leu97=)
NM_018055.5(NODAL):c.406C>T (p.Leu136=)
NM_018055.5(NODAL):c.417C>T (p.Val139=) rs764201898
NM_018055.5(NODAL):c.474T>A (p.Pro158=)
NM_018055.5(NODAL):c.661C>A (p.Arg221=) rs144444359
NM_018055.5(NODAL):c.759G>A (p.Gln253=) rs1554850001
NM_018055.5(NODAL):c.819C>G (p.Ala273=) rs749265748
NM_018055.5(NODAL):c.870G>A (p.Pro290=)
NM_018055.5(NODAL):c.870G>T (p.Pro290=) rs763525961
NM_018055.5(NODAL):c.891+19G>C
NM_018055.5(NODAL):c.93G>A (p.Thr31=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.