ClinVar Miner

List of variants reported as likely benign for Joubert syndrome 8

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Total variants: 13
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NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078
NM_001174150.2(ARL13B):c.1134T>A (p.Pro378=) rs1401884380
NM_001174150.2(ARL13B):c.1137T>A (p.Pro379=) rs1325555759
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.120A>G (p.Gly40=) rs774691904
NM_001174150.2(ARL13B):c.130+7T>C rs200527262
NM_001174150.2(ARL13B):c.501A>C (p.Ala167=) rs774807971
NM_001174150.2(ARL13B):c.59+8G>A rs183229189
NM_001174150.2(ARL13B):c.690-5G>A rs373173586
NM_001174150.2(ARL13B):c.720C>T (p.Leu240=) rs752196300
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243
NM_001174150.2(ARL13B):c.943G>A (p.Gly315Arg) rs143785315

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