ClinVar Miner

List of variants studied for autism spectrum disorder by CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620
NM_004115.3(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_006359.3(SLC9A6):c.1632-19_1632-3del rs1569525894
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963
NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala) rs778220343
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) rs1568070621

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