List of variants reported as pathogenic for autism, susceptibility to, 5

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006593.4(TBR1):c.1049dup (p.Thr350_Ser351insTer)	rs1684180699
NM_006593.4(TBR1):c.1120A>C (p.Asn374His)	rs1684182454
NM_006593.4(TBR1):c.1126G>C (p.Asp376His)
NM_006593.4(TBR1):c.1132A>T (p.Thr378Ser)	rs2105280445
NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu)	rs1553510677
NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter)
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_006593.4(TBR1):c.1731dup (p.Ala578fs)	rs1574152672
NM_006593.4(TBR1):c.405del (p.Ala136fs)	rs1684130791
NM_006593.4(TBR1):c.412_413dup (p.Ile139fs)
NM_006593.4(TBR1):c.682A>G (p.Lys228Glu)	rs1553510219
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys)	rs1559060428
NM_006593.4(TBR1):c.969+1G>C	rs2105279320

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