ClinVar Miner

List of variants studied for autism, susceptiblity to by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_181303.2(NLGN3):c.913+11C>G rs202038845 0.00018
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) rs150900180 0.00001
NM_001110792.2(MECP2):c.1198_1206delinsACCAGCCCCC (p.Pro400fs) rs2065920670
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg) rs1888694098
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp) rs752288417
NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser) rs1887663294
NM_006593.4(TBR1):c.1816C>A (p.Pro606Thr) rs1684280120

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