ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 8

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393 0.00003
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln) rs121912606 0.00001
NM_001174150.2(ARL13B):c.554G>A (p.Trp185Ter) rs760756412 0.00001
NM_001174150.2(ARL13B):c.772C>T (p.Gln258Ter) rs1362774896 0.00001
NC_000003.11:g.(?_93714775)_(93724716_?)del
NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg)
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter) rs121912607
NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys) rs863225430
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001174150.2(ARL13B):c.440dup (p.Ser148fs) rs2107111639
NM_001174150.2(ARL13B):c.538A>T (p.Lys180Ter)
NM_001174150.2(ARL13B):c.550del (p.Tyr184fs)
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly) rs863225149
NM_001174150.2(ARL13B):c.709C>T (p.Gln237Ter)
NM_001174150.2(ARL13B):c.73_74del (p.Leu25fs)
NM_001174150.2(ARL13B):c.830del (p.Asn277fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.932dup (p.Asn311fs) rs750642821
NM_001174150.2(ARL13B):c.986dup (p.Asn330fs) rs2107152691

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