List of variants in gene PHIP reported as pathogenic by Wendy Chung Laboratory, Columbia University Medical Center

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_017934.7(PHIP):c.1654-2A>C
NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)
NM_017934.7(PHIP):c.2744_2747del (p.Lys915fs)	rs1562150844
NM_017934.7(PHIP):c.540_541insA (p.Gly181fs)	rs1562203136
NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs)	rs1554210073
NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)

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