ClinVar Miner

List of variants in gene NODAL reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) rs104894169 0.00023
NM_018055.5(NODAL):c.823C>T (p.Arg275Cys) rs781366461 0.00005
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_018055.5(NODAL):c.891+1G>A rs878855044 0.00001
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) rs1447874899
NM_018055.5(NODAL):c.446del (p.Gly149fs) rs1589152470
NM_018055.5(NODAL):c.555del (p.Thr186fs) rs772802856
NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) rs1589152355
NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer) rs2132214841

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