ClinVar Miner

List of variants reported as pathogenic for autism spectrum disorder by Liping Wei Laboratory,Peking University

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
15q11.2-12duplication
15q13.3duplication
15q25.3duplication
1q42.2deletion
22q11.21deletion
2q37.3deletion
7q31.32deletion
7q32.3duplication
7q35 duplication
9p24.1deletion
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_002397.5(MEF2C):c.403-1G>T rs1561824498
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_018328.4(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_133266.5(SHANK2):c.2540_2541del (p.Leu846_Ser847insTer) rs1565527302

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