ClinVar Miner

List of variants in gene PIBF1 studied for ciliopathy

Included ClinVar conditions (273):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006346.4(PIBF1):c.499A>G (p.Ile167Val) rs1372000 0.31812
NM_006346.4(PIBF1):c.672+38G>A rs9543124 0.14429
NM_006346.4(PIBF1):c.1888A>G (p.Ile630Val) rs11544631 0.02011
NM_006346.4(PIBF1):c.1567C>A (p.His523Asn) rs115858628 0.00971
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_006346.4(PIBF1):c.2138A>C (p.His713Pro) rs41286070 0.00217
NM_006346.4(PIBF1):c.1793T>G (p.Leu598Arg) rs143644781 0.00172
NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter) rs751280996 0.00003
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_006346.4(PIBF1):c.1133A>C (p.His378Pro) rs147863910 0.00001
NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter) rs539010725 0.00001
NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala) rs987735817 0.00001
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459 0.00001
NM_006346.4(PIBF1):c.2113C>A (p.Leu705Ile) rs758859825 0.00001
NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)
NM_006346.4(PIBF1):c.1124A>G (p.Asn375Ser)
NM_006346.4(PIBF1):c.1150_1151insCAGATTGAAAACCAACCAAGAAATTGATCAGCTTCG (p.Ile384delinsThrAspTer) rs2138204996
NM_006346.4(PIBF1):c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis) rs1131692160
NM_006346.4(PIBF1):c.1181_1182insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Arg385_Arg396dup) rs2037306370
NM_006346.4(PIBF1):c.1223+14_1223+15dup rs200683940
NM_006346.4(PIBF1):c.1223+15dup rs200683940
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_006346.4(PIBF1):c.1731-1G>A
NM_006346.4(PIBF1):c.1801C>T (p.Arg601Ter) rs1594219498
NM_006346.4(PIBF1):c.1931C>T (p.Thr644Met)
NM_006346.4(PIBF1):c.1965-4dup rs376654507
NM_006346.4(PIBF1):c.1971_1973delinsT (p.Leu657fs) rs774671946
NM_006346.4(PIBF1):c.2050-8245_2223+758del
NM_006346.4(PIBF1):c.597_598insAAGAAAGGAATCCATTAAGAAAG (p.Glu200delinsLysLysGlyIleHisTer) rs2137980593
NM_006346.4:c.(672+1_673-1)_(1322+1_1323-1)del

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