ClinVar Miner

List of variants in gene SHANK2 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr) rs150857128 0.00372
NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile) rs543988574 0.00014

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