ClinVar Miner

Variants in gene PHEX with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
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.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.399G>A (p.Gln133=) rs1602273860

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