ClinVar Miner

List of variants in gene SHANK3 reported by OMIM

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.1831C>T (p.Arg611Trp) rs387906933
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter) rs387906932
NM_001372044.2(SHANK3):c.4108del (p.Glu1370fs) rs1555910212
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala) rs397514705
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772

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