ClinVar Miner

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

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Total variants: 10
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GRCh37/hg19 2q24.2(chr2:161967492-162428730)
NM_006593.4(TBR1):c.1155C>G (p.Asn385Lys) rs762713626
NM_006593.4(TBR1):c.1177dup (p.Asp393fs) rs1553510680
NM_006593.4(TBR1):c.1369_1371delinsCA (p.Thr457fs) rs1553511175
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.471del (p.Ala156_Tyr157insTer) rs1553510171
NM_006593.4(TBR1):c.713_719del (p.Ser238fs) rs1553510280
NM_006593.4(TBR1):c.844C>T (p.Gln282Ter) rs1553510313
NM_006593.4(TBR1):c.896G>A (p.Trp299Ter) rs1553510385
Single allele

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