ClinVar Miner

List of variants reported as risk factor for Autism, susceptibility to, X-linked 4

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Total variants: 3
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HGVS dbSNP
NM_173495.2(PTCHD1):c.1444del (p.Leu482Tyrfs) rs878854361
NM_173495.2(PTCHD1):c.2128del (p.Leu710Cysfs) rs878854360
NM_173495.3(PTCHD1):c.1796dup (p.Asn599Lysfs) rs879255587

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