List of variants in gene PHEX reported as pathogenic by Athena Diagnostics Inc

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1033C>T (p.Gln345Ter)	rs1569391212
NM_000444.6(PHEX):c.1174-2A>G	rs1064796927
NM_000444.6(PHEX):c.118+1G>T	rs1131691731
NM_000444.6(PHEX):c.1184_1185dup (p.Thr396fs)	rs1602307030
NM_000444.6(PHEX):c.1482+1G>A	rs1064793228
NM_000444.6(PHEX):c.15_16del (p.Gly6fs)	rs1569364701
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)	rs886041224
NM_000444.6(PHEX):c.187+1G>A	rs1556012100
NM_000444.6(PHEX):c.263G>A (p.Trp88Ter)	rs1569369653
NM_000444.6(PHEX):c.282del (p.Glu96fs)	rs1602251992
NM_000444.6(PHEX):c.481dup (p.Arg161fs)	rs1602274746
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)	rs866429868

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