ClinVar Miner

List of variants in gene PIBF1 studied for Joubert syndrome 33

Included ClinVar conditions (2):
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Total variants: 8
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NM_006346.4(PIBF1):c.1133A>C (p.His378Pro)
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter) rs539010725
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914
NM_006346.4(PIBF1):c.1801C>T (p.Arg601Ter)
NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala) rs987735817
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459

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