ClinVar Miner

List of variants in gene PHEX reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.187+223G>A rs141733180 0.01979
NM_000444.6(PHEX):c.436+230G>C rs112329519 0.01548
NM_000444.6(PHEX):c.850-169T>C rs143750363 0.01482
NM_000444.6(PHEX):c.349+170A>G rs139431328 0.01142
NM_000444.6(PHEX):c.1645+302T>C rs5951720 0.00929
NM_000444.6(PHEX):c.1080-173G>A rs146703869 0.00910
NM_000444.6(PHEX):c.1587-266T>A rs2071582 0.00842
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_000444.6(PHEX):c.1482+16A>C rs376298942 0.00034
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_000444.6(PHEX):c.505G>A (p.Val169Met) rs187824835 0.00009
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_000444.6(PHEX):c.1461T>C (p.His487=) rs765101791 0.00005
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp) rs1293482406 0.00003
NM_000444.6(PHEX):c.1645+187dup rs202159277
NM_000444.6(PHEX):c.436+19T>G rs1057523486

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