ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_017777.3(MKS1):c.118C>T (p.His40Tyr) rs199832333
NM_017777.3(MKS1):c.1543C>T (p.Arg515Cys) rs775558298
NM_017777.3(MKS1):c.368G>A (p.Arg123Gln) rs202112856
NM_017777.3(MKS1):c.544G>A (p.Val182Ile) rs200185068

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