ClinVar Miner

List of variants studied for autism, susceptiblity to by Baylor Genetics

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala) rs781890061 0.00004
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu) rs767023297 0.00001
NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His) rs1887513652 0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu) rs967570036 0.00001
NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp) rs1057518651
NM_001170629.2(CHD8):c.2565del (p.Asn855fs) rs1566427770
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)
NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)
NM_001170629.2(CHD8):c.6130C>T (p.Arg2044Ter)
NM_001170629.2(CHD8):c.6518C>A (p.Ser2173Ter) rs781575717
NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs) rs782624357
NM_173495.3(PTCHD1):c.1256C>G (p.Ser419Trp)
NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)
NM_181303.2(NLGN3):c.707A>G (p.Asn236Ser) rs2092405042
NM_181332.3(NLGN4X):c.2428G>A (p.Gly810Arg) rs1181689310
NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter) rs756651509
NM_181332.3(NLGN4X):c.872A>G (p.Tyr291Cys) rs2032034964

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