ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886 0.00205
NM_015100.4(POGZ):c.3297G>A (p.Glu1099=) rs116755407 0.00123
NM_015100.4(POGZ):c.753C>T (p.Ser251=) rs142434646 0.00109
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188 0.00106
NM_015100.4(POGZ):c.222C>T (p.Ser74=) rs145999381 0.00086
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val) rs141251585 0.00071
NM_015100.4(POGZ):c.2559A>G (p.Ile853Met) rs150453554 0.00058
NM_015100.4(POGZ):c.70G>A (p.Val24Ile) rs144510238 0.00040
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159 0.00034
NM_015100.4(POGZ):c.2493C>G (p.Ala831=) rs149634988 0.00019
NM_015100.4(POGZ):c.3279A>T (p.Leu1093=) rs567756416 0.00004
NM_015100.4(POGZ):c.1186-4A>G rs201321619 0.00003
NM_015100.4(POGZ):c.1623T>C (p.Thr541=) rs770222629 0.00003
NM_015100.4(POGZ):c.1548C>T (p.His516=) rs780830514 0.00002
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg) rs145570114
NM_015100.4(POGZ):c.2789C>T (p.Pro930Leu) rs145570114

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