ClinVar Miner

List of variants reported as uncertain significance for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 222
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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_006708.3(GLO1):c.332A>C (p.Glu111Ala) rs4746 0.37595
NM_001110792.2(MECP2):c.*2956G>A rs267608358 0.00342
NM_001110792.2(MECP2):c.*2657G>A rs3027921 0.00301
NM_001110792.2(MECP2):c.*544G>A rs183349022 0.00200
NM_001110792.2(MECP2):c.*861T>G rs187614438 0.00196
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949 0.00093
NM_001110792.2(MECP2):c.*554G>A rs267608353 0.00083
NM_001110792.2(MECP2):c.*371G>C rs187851059 0.00062
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) rs137924687 0.00059
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val) rs147324438 0.00027
NM_001110792.2(MECP2):c.*5348T>C rs267608346 0.00025
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983 0.00019
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712 0.00016
NM_018196.4(TMLHE):c.278G>A (p.Arg93His) rs145371120 0.00016
NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met) rs4995611 0.00016
NM_001110792.2(MECP2):c.*2556T>A rs267608356 0.00014
NM_001110792.2(MECP2):c.*3658C>T rs267608359 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) rs63485860 0.00009
NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu) rs374435577 0.00009
NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln) rs764412489 0.00009
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970 0.00009
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883 0.00007
NM_014141.6(CNTNAP2):c.1033G>A (p.Val345Ile) rs145832489 0.00006
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410 0.00006
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596 0.00006
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952 0.00006
NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile) rs781338949 0.00006
NM_001110792.2(MECP2):c.*177G>C rs267608345 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671 0.00005
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val) rs756994633 0.00005
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792 0.00005
NM_001110792.2(MECP2):c.*767G>T rs267608354 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala) rs781890061 0.00004
NM_012309.5(SHANK2):c.4456G>A (p.Val1486Ile) rs781958792 0.00004
NM_012309.5(SHANK2):c.790G>A (p.Gly264Ser) rs374476702 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln) rs370062980 0.00003
NM_014141.6(CNTNAP2):c.1337A>G (p.Asp446Gly) rs753860243 0.00003
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser) rs370517200 0.00003
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320 0.00003
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438 0.00003
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001170629.2(CHD8):c.2650A>G (p.Met884Val) rs373072733 0.00002
NM_001170629.2(CHD8):c.314C>T (p.Pro105Leu) rs1889555015 0.00002
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly) rs770184277 0.00002
NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=) rs756947754 0.00002
NM_018196.4(TMLHE):c.491C>T (p.Ser164Leu) rs369612445 0.00002
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) rs150900180 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu) rs746163664 0.00001
NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr) rs565918098 0.00001
NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly) rs1435998081 0.00001
NM_001170629.2(CHD8):c.1478G>A (p.Arg493Gln) rs755646683 0.00001
NM_001170629.2(CHD8):c.1899+5G>A rs1555316496 0.00001
NM_001170629.2(CHD8):c.3331G>C (p.Glu1111Gln) rs970353812 0.00001
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu) rs767023297 0.00001
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln) rs370298280 0.00001
NM_001170629.2(CHD8):c.635G>A (p.Arg212Gln) rs771587494 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_012309.5(SHANK2):c.1854-19C>T rs1228203963 0.00001
NM_012309.5(SHANK2):c.2668C>G (p.Pro890Ala) rs782309898 0.00001
NM_012309.5(SHANK2):c.744+8C>T rs529300603 0.00001
NM_012309.5(SHANK2):c.844G>A (p.Glu282Lys) rs548275131 0.00001
NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn) rs748508785 0.00001
NM_014141.6(CNTNAP2):c.3047G>A (p.Arg1016Gln) rs143879959 0.00001
NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr) rs545175315 0.00001
NM_014141.6(CNTNAP2):c.3289C>T (p.Pro1097Ser) rs200823464 0.00001
NM_173495.3(PTCHD1):c.115C>T (p.Leu39Phe) rs763356514 0.00001
NM_173495.3(PTCHD1):c.448G>A (p.Val150Met) rs747642714 0.00001
NM_173653.4(SLC9A9):c.1268G>A (p.Arg423Gln) rs368254745 0.00001
NM_181332.3(NLGN4X):c.2084C>T (p.Ala695Val) rs1200279731 0.00001
NM_181332.3(NLGN4X):c.2294G>A (p.Arg765His) rs1323836608 0.00001
NM_001110792.2(MECP2):c.*204G>A rs267608352
NM_001110792.2(MECP2):c.*2706G>A rs267608357
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) rs61752976
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.564del (p.Lys189fs)
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val) rs61749705
NM_001110792.2(MECP2):c.63-55G>A rs267608414
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)
NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg) rs1888694098
NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)
NM_001170629.2(CHD8):c.2070G>A (p.Lys690=)
NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)
NM_001170629.2(CHD8):c.2226+3G>T rs2139492445
NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)
NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)
NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr) rs1013103711
NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg) rs765569494
NM_001170629.2(CHD8):c.3052-11A>G rs1888218188
NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)
NM_001170629.2(CHD8):c.3479G>A (p.Arg1160His)
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp) rs752288417
NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)
NM_001170629.2(CHD8):c.4285C>T (p.Arg1429Trp)
NM_001170629.2(CHD8):c.4592G>A (p.Arg1531His) rs192277407
NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser) rs1887663294
NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)
NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)
NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)
NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)
NM_001170629.2(CHD8):c.6077T>C (p.Leu2026Pro)
NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del) rs150254629
NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)
NM_001170629.2(CHD8):c.639A>C (p.Pro213=) rs2139539459
NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)
NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe) rs773908554
NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)
NM_001170629.2(CHD8):c.6601C>T (p.Pro2201Ser)
NM_001170629.2(CHD8):c.6795C>T (p.Phe2265=)
NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del) rs755776815
NM_001170629.2(CHD8):c.7182+1G>A
NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)
NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)
NM_001170629.2(CHD8):c.7620_7631dup (p.Asp2543_Glu2544insAspAspGluAsp)
NM_001170629.2(CHD8):c.7724C>T (p.Ser2575Phe)
NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)
NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)
NM_005334.3(HCFC1):c.1456G>C (p.Val486Leu)
NM_005334.3(HCFC1):c.1583C>T (p.Pro528Leu) rs2148586729
NM_006013.5(RPL10):c.214G>A (p.Ala72Thr)
NM_006593.4(TBR1):c.1155C>A (p.Asn385Lys) rs762713626
NM_006593.4(TBR1):c.1175G>A (p.Arg392Gln)
NM_006593.4(TBR1):c.1191-5C>A rs1412546585
NM_006593.4(TBR1):c.1271G>A (p.Arg424His)
NM_006593.4(TBR1):c.1370C>G (p.Thr457Arg)
NM_006593.4(TBR1):c.164T>C (p.Ile55Thr)
NM_006593.4(TBR1):c.1709C>T (p.Ala570Val)
NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr)
NM_006593.4(TBR1):c.1816C>A (p.Pro606Thr) rs1684280120
NM_006593.4(TBR1):c.1948A>G (p.Ser650Gly) rs1684282566
NM_006593.4(TBR1):c.1952C>T (p.Ser651Leu)
NM_006593.4(TBR1):c.2047T>G (p.Ter683Glu)
NM_006593.4(TBR1):c.251C>G (p.Ser84Cys)
NM_006593.4(TBR1):c.284A>G (p.His95Arg) rs2105278281
NM_006593.4(TBR1):c.287G>A (p.Ser96Asn)
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser) rs1559059936
NM_006593.4(TBR1):c.559G>C (p.Ala187Pro)
NM_006593.4(TBR1):c.592G>C (p.Gly198Arg) rs764392292
NM_006593.4(TBR1):c.661C>A (p.Gln221Lys)
NM_006593.4(TBR1):c.73C>A (p.Pro25Thr) rs757176020
NM_006593.4(TBR1):c.748T>C (p.Tyr250His)
NM_006593.4(TBR1):c.842T>C (p.Val281Ala)
NM_006593.4(TBR1):c.853C>G (p.Arg285Gly) rs754584509
NM_006593.4(TBR1):c.913T>C (p.Ser305Pro)
NM_012309.5(SHANK2):c.1174+30434A>C rs2135521960
NM_012309.5(SHANK2):c.162del (p.Asn55fs)
NM_012309.5(SHANK2):c.2308+1G>A rs2135811944
NM_012309.5(SHANK2):c.2333C>G (p.Ala778Gly) rs1555156140
NM_012309.5(SHANK2):c.2531T>C (p.Met844Thr)
NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His) rs781863842
NM_012309.5(SHANK2):c.3454dup (p.Glu1152fs) rs1565529155
NM_012309.5(SHANK2):c.3704A>G (p.Lys1235Arg) rs1591488559
NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu) rs1555152736
NM_012309.5(SHANK2):c.729C>A (p.Asn243Lys) rs1951573835
NM_012309.5(SHANK2):c.993dup (p.Asn332fs)
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg) rs759797092
NM_014141.6(CNTNAP2):c.2945A>G (p.Glu982Gly) rs752419100
NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln) rs138257598
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys) rs138661307
NM_014141.6(CNTNAP2):c.875T>A (p.Leu292Gln) rs1801102530
NM_018196.4(TMLHE):c.523G>A (p.Glu175Lys)
NM_018196.4(TMLHE):c.638+83_995+2127del
NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys) rs782121512
NM_173495.3(PTCHD1):c.113T>A (p.Leu38Gln) rs1135401941
NM_173495.3(PTCHD1):c.1256C>G (p.Ser419Trp)
NM_173495.3(PTCHD1):c.1435G>A (p.Glu479Lys)
NM_173495.3(PTCHD1):c.145GAG[1] (p.Glu50del)
NM_173495.3(PTCHD1):c.1786C>T (p.Arg596Trp)
NM_173495.3(PTCHD1):c.1975GAA[1] (p.Glu660del)
NM_173495.3(PTCHD1):c.2186T>A (p.Leu729His)
NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)
NM_173495.3(PTCHD1):c.47G>A (p.Arg16Gln) rs1921121432
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
NM_173495.3(PTCHD1):c.907G>A (p.Gly303Arg) rs1060499615
NM_173495.3(PTCHD1):c.95C>T (p.Pro32Leu)
NM_173653.4(SLC9A9):c.119del (p.Leu40fs)
NM_173653.4(SLC9A9):c.1203+1G>A rs2035814212
NM_173653.4(SLC9A9):c.1380G>T (p.Met460Ile)
NM_181303.2(NLGN3):c.1384G>A (p.Ala462Thr)
NM_181303.2(NLGN3):c.163C>T (p.Arg55Ter)
NM_181303.2(NLGN3):c.707A>G (p.Asn236Ser) rs2092405042
NM_181303.2(NLGN3):c.806G>A (p.Ser269Asn) rs2092439435
NM_181332.3(NLGN4X):c.1309C>T (p.Arg437Trp)
NM_181332.3(NLGN4X):c.1614A>C (p.Gln538His)
NM_181332.3(NLGN4X):c.1661T>C (p.Phe554Ser) rs1601840441
NM_181332.3(NLGN4X):c.187C>A (p.Pro63Thr) rs150566193
NM_181332.3(NLGN4X):c.2080G>A (p.Ala694Thr) rs2031290322
NM_181332.3(NLGN4X):c.2259G>C (p.Arg753Ser) rs886042929
NM_181332.3(NLGN4X):c.2428G>A (p.Gly810Arg) rs1181689310
NM_181332.3(NLGN4X):c.872A>G (p.Tyr291Cys) rs2032034964

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