ClinVar Miner

List of variants in gene PIBF1 studied for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_006346.3(PIBF1):c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis) rs1131692160
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.1669del (p.Leu557fs) rs863225214
NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala) rs987735817
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459
PIBF1, EX6-9 DEL

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