ClinVar Miner

List of variants studied for Meckel syndrome by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter) rs1970430433

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