ClinVar Miner

List of variants reported as benign for Joubert syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_001375405.1(CEP120):c.1431-11_1431-9del rs776090638 0.00033
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_001384732.1(CPLANE1):c.2746+16del rs751625561
NM_006346.4(PIBF1):c.1223+15dup rs200683940

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