ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome with ocular defect by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
CEP41, 3-BP DEL, IVS1DS, 97GAG
CEP41, IVS1DS, T-G, +2
CEP41, IVS6AS, A-C, -2
CEP41, SER28TER
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050
NM_017777.3(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1491-2A>G rs886038203
NM_017777.3(MKS1):c.1588+1G>T rs886038204
NM_152388.4(TMEM237):c.1042dup (p.Gln348fs) rs751952525

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