ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 8

Included ClinVar conditions (1):
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Total variants: 11
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NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474
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.1253G>A (p.Arg418Gln) rs142510905
NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly) rs112062713
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001174150.2(ARL13B):c.682G>A (p.Glu228Lys)
NM_001174150.2(ARL13B):c.715G>A (p.Glu239Lys) rs778540135
NM_001174150.2(ARL13B):c.775C>T (p.Pro259Ser) rs538624288
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169

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