List of variants in gene PHEX reported as likely pathogenic by Mendelics

Minimum submission review status:		Collection method:
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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)	rs1556026033
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg)	rs1602303865
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)	rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del	rs886042234
NM_000444.6(PHEX):c.1586+5G>A	rs1602363550
NM_000444.6(PHEX):c.187+1G>C	rs1556012100
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser)	rs137853269
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)	rs1602273900
NM_000444.6(PHEX):c.436+5G>T	rs1602273945
NM_000444.6(PHEX):c.591A>G (p.Gln197=)	rs1556020818

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