ClinVar Miner

List of variants studied for autism, susceptiblity to by New York Genome Center

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.790G>A (p.Gly264Ser) rs374476702 0.00004
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly) rs770184277 0.00002
NM_001170629.2(CHD8):c.3331G>C (p.Glu1111Gln) rs970353812 0.00001
NM_012309.5(SHANK2):c.2668C>G (p.Pro890Ala) rs782309898 0.00001
NM_012309.5(SHANK2):c.844G>A (p.Glu282Lys) rs548275131 0.00001
NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe) rs773908554
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser) rs1559059936
NM_006593.4(TBR1):c.853C>G (p.Arg285Gly) rs754584509
NM_012309.5(SHANK2):c.1174+30434A>C rs2135521960
NM_012309.5(SHANK2):c.729C>A (p.Asn243Lys) rs1951573835
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_018196.4(TMLHE):c.638+83_995+2127del
NM_173653.4(SLC9A9):c.1203+1G>A rs2035814212
NM_181303.2(NLGN3):c.806G>A (p.Ser269Asn) rs2092439435

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