List of variants in gene SMAD9 reported as pathogenic for cardiovascular disorder

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu)	rs397514715	0.00003
NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)	rs397514716	0.00001
NC_000013.10:g.(?_37446775)_(37453826_?)del
NM_001127217.3(SMAD9):c.137_140del (p.Lys46fs)
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter)	rs2138492919
NM_001127217.3(SMAD9):c.606C>A (p.Cys202Ter)	rs121918359
NM_001127217.3(SMAD9):c.686del (p.Leu229fs)
NM_001127217.3(SMAD9):c.71G>A (p.Trp24Ter)
NM_001127217.3(SMAD9):c.850C>T (p.Arg284Ter)

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