List of variants in gene PHF6 reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001015877.2(PHF6):c.342A>C (p.Gln114His)	rs1303947958	0.00003
NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser)	rs202007952	0.00002
NM_001015877.2(PHF6):c.152C>A (p.Ala51Asp)	rs778511523	0.00001
NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala)	rs762897039	0.00001
NM_001015877.2(PHF6):c.380A>G (p.Tyr127Cys)	rs911570058	0.00001
NM_001015877.2(PHF6):c.156G>A (p.Leu52=)	rs2520470378
NM_001015877.2(PHF6):c.179A>G (p.Glu60Gly)
NM_001015877.2(PHF6):c.207T>C (p.Asp69=)
NM_001015877.2(PHF6):c.298C>T (p.His100Tyr)
NM_001015877.2(PHF6):c.331G>A (p.Asp111Asn)
NM_001015877.2(PHF6):c.410A>G (p.Asn137Ser)
NM_001015877.2(PHF6):c.434G>A (p.Ser145Asn)
NM_001015877.2(PHF6):c.470A>G (p.Lys157Arg)
NM_001015877.2(PHF6):c.488G>A (p.Arg163His)	rs2124248390
NM_001015877.2(PHF6):c.508A>G (p.Thr170Ala)	rs2124248446
NM_001015877.2(PHF6):c.511A>G (p.Asn171Asp)
NM_001015877.2(PHF6):c.62A>C (p.Lys21Thr)
NM_001015877.2(PHF6):c.732G>C (p.Leu244Phe)	rs2124250295
NM_001015877.2(PHF6):c.755T>C (p.Leu252Pro)	rs2124250323
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del)	rs1556019105
NM_001015877.2(PHF6):c.767C>T (p.Ser256Leu)	rs2520636073
NM_001015877.2(PHF6):c.77A>T (p.Lys26Met)	rs2077284287
NM_001015877.2(PHF6):c.883A>G (p.Lys295Glu)
NM_001015877.2(PHF6):c.940A>G (p.Ile314Val)	rs2124252852
NM_001015877.2(PHF6):c.996TGA[1] (p.Asp333del)	rs2124261556

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