List of variants in gene SMAD2 studied for cardiovascular disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_005901.6(SMAD2):c.828G>A (p.Ser276=)	rs1051066	0.01853
NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)
NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr)	rs2144290354
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg)	rs746828424
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser)	rs2144276501
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg)	rs2144276285
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys)	rs2144276135
NM_005901.6(SMAD2):c.237-12A>G	rs1402819968
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)	rs1064793873
NM_005901.6(SMAD2):c.507_508del (p.Arg169fs)
NM_005901.6(SMAD2):c.544dup (p.Arg182fs)
NM_005901.6(SMAD2):c.612dup (p.Asn205Ter)	rs2144373131
NM_005901.6(SMAD2):c.730+3dup	rs149135973
NM_005901.6(SMAD2):c.748_754del (p.Ser250fs)
NM_005901.6(SMAD2):c.784+1G>A	rs397509416
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys)	rs367537998
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val)	rs2144300734
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg)	rs2144300077
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser)	rs797044882
NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu)
Single allele

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