ClinVar Miner

List of variants in gene SHANK3 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr) rs749130556 0.00319
NM_001372044.2(SHANK3):c.1398C>G (p.Pro466=) rs371565755 0.00013
NM_001372044.2(SHANK3):c.928C>T (p.Leu310=) rs756340256 0.00003
NM_001372044.2(SHANK3):c.2145G>A (p.Lys715=) rs373607816 0.00001
NM_001372044.2(SHANK3):c.3806T>C (p.Met1269Thr) rs797045960
NM_001372044.2(SHANK3):c.4756C>T (p.Leu1586=) rs2146833802

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