ClinVar Miner

List of variants reported as benign for Joubert syndrome 1 by Mendelics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001142301.1(TMEM67):c.-180+30G>A rs199961375
NM_001142301.1(TMEM67):c.835A>G (p.Thr279Ala) rs140191346
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001174150.2(ARL13B):c.486+22del
NM_001174150.2(ARL13B):c.486+22dup
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050
NM_024753.5(TTC21B):c.2322+3A>G rs79037278
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467

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