ClinVar Miner

List of variants studied for Jeune syndrome by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter) rs1732670701
NM_001199397.3(NEK1):c.984del (p.Lys328fs) rs1432921892
NM_001377.3(DYNC2H1):c.3446G>A (p.Trp1149Ter) rs2134885529

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