List of variants in gene NODAL reported as pathogenic for visceral heterotaxy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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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.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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