ClinVar Miner

List of variants reported as likely pathogenic for Autistic behavior; Moderate global developmental delay

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Total variants: 9
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HGVS dbSNP
NC_000002.11:g.161967492_162428730del461239
NM_006593.3(TBR1):c.1155C>G (p.Asn385Lys) rs762713626
NM_006593.3(TBR1):c.1177dup (p.Asp393Glyfs) rs1553510680
NM_006593.3(TBR1):c.1369_1371delACGinsCA (p.Thr457Glnfs) rs1553511175
NM_006593.3(TBR1):c.471del (p.Tyr157Terfs) rs1553510171
NM_006593.3(TBR1):c.713_719del (p.Ser238Thrfs) rs1553510280
NM_006593.3(TBR1):c.844C>T (p.Gln282Ter) rs1553510313
NM_006593.3(TBR1):c.896G>A (p.Trp299Ter) rs1553510385
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532Argfs) rs869312704

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