List of variants in gene PHEX reported as likely pathogenic 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)	rs1556026033
NM_000444.6(PHEX):c.1302+1G>T	rs1131691841
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser)	rs1057517904
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)	rs1085308012
NM_000444.6(PHEX):c.1366T>G (p.Trp456Gly)	rs1085308012
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)	rs886043680
NM_000444.6(PHEX):c.1482+1G>A	rs1064793228
NM_000444.6(PHEX):c.1586+6T>G	rs1057518214
NM_000444.6(PHEX):c.1645+5G>C	rs1085307522
NM_000444.6(PHEX):c.332_334del (p.Val111del)	rs1064795949
NM_000444.6(PHEX):c.349+1G>C	rs193922459
NM_000444.6(PHEX):c.436+1G>C	rs1057517788
NM_000444.6(PHEX):c.611T>A (p.Ile204Asn)	rs1085307950
NM_000444.6(PHEX):c.664-2A>C	rs1131692026
NM_000444.6(PHEX):c.758TGG[1] (p.Val254del)	rs1064796391

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