ClinVar Miner

List of variants studied for orofacial cleft by Autoinflammatory diseases unit, CHU de Montpellier

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.2168dup (p.Leu723fs) rs2042262374
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)

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