ClinVar Miner

List of variants studied for autism, susceptiblity to by OMIM

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001427.4(EN2):c.686-921T>C rs1861973 0.72609
NM_001427.4(EN2):c.686-1073G>A rs1861972 0.72174
NM_000245.4(MET):c.-207= rs1858830 0.60080
NM_014141.6(CNTNAP2):c.2099-26267A>G rs2710102 0.56294
NM_014141.6(CNTNAP2):c.208+18133A>T rs7794745 0.48764
NM_006708.3(GLO1):c.332A>C (p.Glu111Ala) rs4746 0.37595
NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp) rs782001959 0.00571
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter) rs781889971 0.00005
NM_006013.5(RPL10):c.639C>G (p.His213Gln) rs782521991 0.00003
NM_173653.4(SLC9A9):c.1267C>T (p.Arg423Ter) rs121912597 0.00003
NM_006013.5(RPL10):c.616C>A (p.Leu206Met) rs387906727 0.00001
NC_000004.12:g.98929153dup rs142990298
NC_000023.11:g.(155524633_155545096)_(155545276_155612791)del
NC_000023.11:g.5250357_6007153del
NG_042866.2:g.(460061_462693)_(532018_533659)del
NG_042866.2:g.496951_616776del
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) rs587777421
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001170629.2(CHD8):c.185C>G (p.Ser62Ter) rs1331026006
NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter) rs1555316331
NM_001170629.2(CHD8):c.2240dup (p.Tyr747Ter) rs2139484859
NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn) rs2139469836
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter) rs397514551
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001170629.2(CHD8):c.4818-1G>A rs2139460816
NM_001170629.2(CHD8):c.6307_6310del (p.Glu2103fs) rs1887639311
NM_001170629.2(CHD8):c.6355_6356del (p.Leu2120fs) rs1887627866
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001170629.2(CHD8):c.7481ACC[4] (p.His2498del) rs774490485
NM_001365925.2(NLGN1):c.266C>T (p.Pro89Leu) rs1751123722
NM_001365925.2(NLGN1):c.866T>C (p.Leu289Pro) rs1750373491
NM_001365925.2(NLGN1):c.950G>A (p.Gly317Glu) rs1751075634
NM_006593.4(TBR1):c.1049dup (p.Thr350_Ser351insTer) rs1684180699
NM_006593.4(TBR1):c.1120A>C (p.Asn374His) rs1684182454
NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu) rs1553510677
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.405del (p.Ala136fs) rs1684130791
NM_006593.4(TBR1):c.682A>G (p.Lys228Glu) rs1553510219
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys) rs1559060428
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
NM_018196.4(TMLHE):c.730G>C (p.Asp244His) rs869320708
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs) rs782624357
NM_173495.3(PTCHD1):c.1444del (p.Leu482fs) rs878854361
NM_173495.3(PTCHD1):c.1796dup (p.Asn599fs) rs879255587
NM_173495.3(PTCHD1):c.2128del (p.Leu710fs) rs878854360
NM_181303.2(NLGN3):c.1411C>T (p.Arg471Cys) rs121917893
NM_181332.3(NLGN4X):c.1185dup (p.Asp396Ter) rs1569118853
NM_181332.3(NLGN4X):c.1254_1255del (p.Glu418fs) rs1569118680

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