ClinVar Miner

List of variants studied for autism, susceptiblity to by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.1634C>T (p.Ala545Val) rs771772546 0.00005
NM_014141.6(CNTNAP2):c.3047G>A (p.Arg1016Gln) rs143879959 0.00001
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr)
NM_006593.4(TBR1):c.284A>G (p.His95Arg) rs2105278281
NM_173653.4(SLC9A9):c.1380G>T (p.Met460Ile)
NM_181303.2(NLGN3):c.2222T>G (p.Leu741Arg)

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