ClinVar Miner

List of variants studied for autism spectrum disorder by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) rs1571164333
NM_001029896.2(WDR45):c.225dup (p.Glu76fs) rs1602540235
NM_001032221.6(STXBP1):c.1359+1G>T rs796053370
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_003165.4(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_006920.6(SCN1A):c.602+1G>A
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733

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