ClinVar Miner

List of variants in gene SMAD4 reported as likely benign for Myhre syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_005359.5(SMAD4):c.*4587_*4590delGAGA rs374333786
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.5(SMAD4):c.*6588C>G rs186324049
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813
NM_005359.6(SMAD4):c.*2968del rs574286440
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4867dup rs571773833
NM_005359.6(SMAD4):c.*6353del rs573785159
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484

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