ClinVar Miner

List of variants studied for Jeune syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser) rs372878677
NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg) rs371932985
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_052844.4(DYNC2I2):c.1340_1341delinsTA (p.Arg447Leu) rs1860309810

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