ClinVar Miner

List of variants studied for Joubert syndrome 8

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Total variants: 23
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HGVS dbSNP
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
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.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.1186C>G (p.Pro396Ala) rs11554412
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln) rs142510905
NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly) rs112062713
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln) rs121912606
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.422C>G (p.Ala141Gly) rs529580146
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393
NM_001174150.2(ARL13B):c.501A>C (p.Ala167=) rs774807971
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly) rs863225149
NM_001174150.2(ARL13B):c.682G>A (p.Glu228Lys)
NM_001174150.2(ARL13B):c.715G>A (p.Glu239Lys) rs778540135
NM_001174150.2(ARL13B):c.720C>T (p.Leu240=) rs752196300
NM_001174150.2(ARL13B):c.775C>T (p.Pro259Ser) rs538624288
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169

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