ClinVar Miner

List of variants in gene combination LOC130057352, SMAD3 reported as benign for Marfan and Marfan-related disorder

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.-15G>A rs1061427 0.22024
NM_005902.4(SMAD3):c.-28C>T rs144374592 0.01666
NM_005902.4(SMAD3):c.-23C>T rs36221703 0.00185
NM_005902.4(SMAD3):c.27C>T (p.Pro9=) rs765454938

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