ClinVar Miner

List of variants reported as uncertain significance for Jeune syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys) rs149452352 0.00121
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser) rs201510850 0.00064
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00029
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) rs772439717 0.00019
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_001377.3(DYNC2H1):c.8218A>G (p.Thr2740Ala) rs768871834 0.00004
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.6700A>T (p.Thr2234Ser) rs370888884 0.00003
NM_001377.3(DYNC2H1):c.2719T>C (p.Cys907Arg) rs534081459 0.00002
NM_001377.3(DYNC2H1):c.12317T>C (p.Leu4106Ser) rs369591902 0.00001
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His) rs201484896 0.00001
NM_001377.3(DYNC2H1):c.10606-14A>G rs989023092
NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)
NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr) rs2134994345
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu) rs199675558
NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro) rs2135150032
NM_001377.3(DYNC2H1):c.9425C>T (p.Ser3142Leu)
NM_052844.4(DYNC2I2):c.296C>T (p.Pro99Leu) rs2132156076

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