ClinVar Miner

List of variants studied for autism, susceptiblity to by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_181332.3(NLGN4X):c.2294G>A (p.Arg765His) rs1323836608 0.00001
NM_001170629.2(CHD8):c.1658C>A (p.Ser553Ter)
NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln) rs2139467378
NM_001170629.2(CHD8):c.7094G>A (p.Trp2365Ter) rs752374375
NM_006593.4(TBR1):c.1126G>C (p.Asp376His)
NM_006593.4(TBR1):c.1948A>G (p.Ser650Gly) rs1684282566

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