ClinVar Miner

List of variants studied for Joubert syndrome 8 by Invitae

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP
NM_182896.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474
NM_182896.2(ARL13B):c.105C>T (p.Thr35=) rs146396078
NM_182896.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_182896.2(ARL13B):c.1261A>G (p.Ser421Gly) rs112062713
NM_182896.2(ARL13B):c.393_396delACAA (p.Gln132Ilefs)
NM_182896.2(ARL13B):c.501A>C (p.Ala167=) rs774807971
NM_182896.2(ARL13B):c.682G>A (p.Glu228Lys)
NM_182896.2(ARL13B):c.715G>A (p.Glu239Lys) rs778540135
NM_182896.2(ARL13B):c.720C>T (p.Leu240=) rs752196300
NM_182896.2(ARL13B):c.775C>T (p.Pro259Ser) rs538624288

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