ClinVar Miner

List of variants in gene SMAD3 reported as benign for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_005902.4(SMAD3):c.*2227G>A rs11638476 0.31592
NM_005902.4(SMAD3):c.533-478T>C rs17228212 0.20997
NM_005902.4(SMAD3):c.*2793C>T rs3743342 0.19499
NM_005902.4(SMAD3):c.*2282C>T rs12595334 0.19274
NM_005902.4(SMAD3):c.*1423C>T rs2278670 0.19250
NM_005902.4(SMAD3):c.*1105G>A rs8031440 0.19244
NM_005902.4(SMAD3):c.*1245G>A rs8031627 0.19233
NM_005902.4(SMAD3):c.*402C>T rs8025774 0.19194
NM_005902.4(SMAD3):c.207-14637C>T rs17293632 0.17469
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039 0.00038
NM_005902.4(SMAD3):c.207-11C>T rs148430981 0.00026
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_005902.4(SMAD3):c.372C>A (p.Pro124=) rs765624013 0.00002
NM_005902.4(SMAD3):c.206+11G>T rs763321881 0.00001
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr) rs548756379 0.00001
NM_005902.4(SMAD3):c.*3512A>G rs886051429
NM_005902.4(SMAD3):c.*3719C>T rs886051431
NM_005902.4(SMAD3):c.206+21del
NM_005902.4(SMAD3):c.206+21dup
NM_005902.4(SMAD3):c.506G>A (p.Gly169Asp)

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