ClinVar Miner

List of variants in gene SHANK3 reported as pathogenic by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.3867dup (p.Thr1290fs) rs2083287955
NM_001372044.2(SHANK3):c.4254_4255del (p.Ser1418fs) rs1057519395
NM_001372044.2(SHANK3):c.4835_4839dup (p.Leu1615fs) rs2146843340
NM_001372044.2(SHANK3):c.5107C>A (p.Arg1703Ser) rs2083360139
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772

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