ClinVar Miner

List of variants reported as likely pathogenic for Autism, susceptibility to, 18

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Total variants: 8
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HGVS dbSNP
NC_000014.9:g.21394336_21394345del
NM_020920.4(CHD8):c.1480C>T (p.Arg494Ter) rs776631057
NM_020920.4(CHD8):c.1597C>T (p.Arg533Trp) rs1057518651
NM_020920.4(CHD8):c.3774del (p.Lys1258_Val1259insTer) rs1555314317
NM_020920.4(CHD8):c.5266C>T (p.Arg1756Ter) rs1131691627
NM_020920.4(CHD8):c.5458G>A (p.Glu1820Lys) rs1555313219
NM_020920.4(CHD8):c.5507_5508del (p.Leu1835_Tyr1836insTer)
NM_020920.4(CHD8):c.907C>T (p.Arg303Ter) rs863224857

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