ClinVar Miner

List of variants studied for Jeune syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
GRCh37/hg19 16p13.3(chr16:1568167-1570859)x3
NM_001377.3(DYNC2H1):c.1856A>G (p.Gln619Arg) rs1858933013
NM_001377.3(DYNC2H1):c.7402C>G (p.Leu2468Val) rs1342095648
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279

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