ClinVar Miner

Variants in gene ANK3 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.5137G>A (p.Val1713Ile) rs544357242 0.00134
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu) rs139022925 0.00126
NM_020987.5(ANK3):c.4029G>A (p.Glu1343=) rs116757606 0.00114
NM_020987.5(ANK3):c.11159C>T (p.Thr3720Met) rs201547988 0.00014
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp) rs993289778 0.00001

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