ClinVar Miner

List of variants reported as pathogenic for autism (disease) by CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) rs1568070621

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