ClinVar Miner

List of variants reported as pathogenic for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
GRCh37/hg19 14q11.2(chr14:21851693-22089506)x1
GRCh37/hg19 Xp22.11(chrX:23209046-23383351)
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
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.337_1247del911 (p.Pro113fs)
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001170629.2(CHD8):c.117_133del (p.Pro40fs) rs1566446604
NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)
NM_001170629.2(CHD8):c.1473_1477delinsAGGAA (p.Ser491_Val492delinsArgGly)
NM_001170629.2(CHD8):c.2025-1G>C
NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter) rs1555316331
NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)
NM_001170629.2(CHD8):c.2565del (p.Asn855fs) rs1566427770
NM_001170629.2(CHD8):c.3308-1G>C rs1888129073
NM_001170629.2(CHD8):c.3308-2A>G rs2139470242
NM_001170629.2(CHD8):c.347del (p.Thr116fs) rs1135401763
NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn) rs2139469836
NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter) rs1888108124
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.3623G>T (p.Cys1208Phe)
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter) rs397514551
NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter) rs1555314788
NM_001170629.2(CHD8):c.3790_3796del (p.Glu1264fs) rs2139467241
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966
NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp) rs2139462537
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4818-1G>A rs2139460816
NM_001170629.2(CHD8):c.4871G>A (p.Trp1624Ter) rs1555314122
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.5488C>T (p.Arg1830Cys)
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter) rs55884219
NM_001170629.2(CHD8):c.5646_5647del (p.Arg1882fs) rs2139448045
NM_001170629.2(CHD8):c.5744del (p.Pro1915fs) rs2139447795
NM_001170629.2(CHD8):c.6002del (p.Pro2001fs) rs2139447345
NM_001170629.2(CHD8):c.634C>T (p.Arg212Ter) rs556977377
NM_001170629.2(CHD8):c.6518C>A (p.Ser2173Ter) rs781575717
NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)
NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter) rs1555313027
NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)
NM_001829.4(CLCN3):c.2033A>C (p.Asp678Ala)
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.1126G>C (p.Asp376His)
NM_006593.4(TBR1):c.1132A>T (p.Thr378Ser) rs2105280445
NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu) rs1553510677
NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter)
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.1731dup (p.Ala578fs) rs1574152672
NM_006593.4(TBR1):c.405del (p.Ala136fs) rs1684130791
NM_006593.4(TBR1):c.412_413dup (p.Ile139fs)
NM_006593.4(TBR1):c.682A>G (p.Lys228Glu) rs1553510219
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys) rs1559060428
NM_006593.4(TBR1):c.969+1G>C rs2105279320
NM_012309.5(SHANK2):c.1896dup (p.Asp633fs) rs1555013332
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
NM_012309.5(SHANK2):c.2533C>T (p.Arg845Ter) rs2058867660
NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter) rs2135739220
NM_012309.5(SHANK2):c.4604del (p.Asp1535fs)
NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs)
NM_016179.4(TRPC4):c.379-2A>T
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs) rs782624357
NM_021008.4(DEAF1):c.674G>T (p.Gly225Val)
NM_138615.3(DHX30):c.1930-1G>T
NM_170606.3(KMT2C):c.2573G>T (p.Trp858Leu) rs111493987
NM_181303.2(NLGN3):c.611T>C (p.Val204Ala)
NM_181332.3(NLGN4X):c.1254_1255del (p.Glu418fs) rs1569118680
NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter) rs756651509

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