ClinVar Miner

List of variants studied for Joubert syndrome by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (58):
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ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_001009894.3(C12orf29):c.*807_*808CT[1] rs569673313
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447
NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001134831.2(AHI1):c.2623+1G>T
NM_001142301.1(TMEM67):c.1526T>C (p.Phe509Ser) rs267607115
NM_001174150.2(ARL13B):c.1073G>A (p.Arg358Gln) rs369942016
NM_001174150.2(ARL13B):c.1133C>T (p.Pro378Leu) rs1385061611
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_016169.3(SUFU):c.325G>A (p.Gly109Arg)
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207

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