ClinVar Miner

List of variants in gene SMAD6 reported as likely pathogenic for aortic disorder

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro) rs1213841516 0.00001
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) rs900988907
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter) rs1893037722
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter) rs1259557323
NM_005585.5(SMAD6):c.865A>T (p.Lys289Ter) rs2140596481
NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala) rs1411192932

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