ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome and related disorders by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313

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