ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome with ocular defect by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) rs199832333

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