List of variants in gene PIBF1 reported as uncertain significance for ciliopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006346.4(PIBF1):c.1888A>G (p.Ile630Val)	rs11544631	0.02011
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	rs17089782	0.00771
NM_006346.4(PIBF1):c.1793T>G (p.Leu598Arg)	rs143644781	0.00172
NM_006346.4(PIBF1):c.2113C>A (p.Leu705Ile)	rs758859825	0.00001
NM_006346.4(PIBF1):c.1124A>G (p.Asn375Ser)
NM_006346.4(PIBF1):c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis)	rs1131692160
NM_006346.4(PIBF1):c.1931C>T (p.Thr644Met)
NM_006346.4(PIBF1):c.2050-8245_2223+758del

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