ClinVar Miner

List of variants reported as uncertain significance for Autism spectrum disorder

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ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_012309.5(SHANK2):c.*3245T>C rs78378706 0.01218
NM_003097.6(SNRPN):c.-378C>T rs426541 0.01033
NM_012309.5(SHANK2):c.207+15C>T rs77851214 0.00908
NM_003097.6(SNRPN):c.3+10A>G rs112560608 0.00515
NM_012309.5(SHANK2):c.168G>A (p.Thr56=) rs150944234 0.00325
NM_012309.5(SHANK2):c.396C>A (p.Gly132=) rs148065633 0.00290
NM_012309.5(SHANK2):c.51C>T (p.Ser17=) rs376267466 0.00265
NM_022807.5(SNRPN):c.-584A>G rs58890023 0.00181
NM_012309.5(SHANK2):c.256C>A (p.Arg86=) rs377135249 0.00051
NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn) rs183556625 0.00034
NM_003097.6(SNRPN):c.183T>C (p.Arg61=) rs373215950 0.00031
NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser) rs201642016 0.00031
NM_012309.5(SHANK2):c.900C>T (p.His300=) rs529058522 0.00029
NM_012309.5(SHANK2):c.*3475C>G rs568643386 0.00028
NM_012309.5(SHANK2):c.771A>G (p.Pro257=) rs200821952 0.00019
NM_012309.5(SHANK2):c.*585C>T rs568990616 0.00016
NM_003097.6(SNRPN):c.-274G>A rs142583293 0.00014
NM_012309.5(SHANK2):c.*1545T>G rs371429377 0.00014
NM_012309.5(SHANK2):c.332G>A (p.Arg111His) rs368652424 0.00012
NM_003097.6(SNRPN):c.-86G>A rs886051018 0.00011
NM_012309.5(SHANK2):c.*3947C>G rs147625536 0.00011
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu) rs782210973 0.00010
NM_003097.6(SNRPN):c.-280C>T rs372295822 0.00009
NM_012309.5(SHANK2):c.*591C>A rs879971097 0.00009
NM_012309.5(SHANK2):c.1793G>A (p.Arg598His) rs568385491 0.00006
NM_012309.5(SHANK2):c.576C>T (p.His192=) rs561132233 0.00006
NM_003097.6(SNRPN):c.-20G>T rs763736287 0.00005
NM_001394998.1(TANC2):c.2486G>A (p.Arg829His) rs775421108 0.00004
NM_003097.6(SNRPN):c.-295+8C>G rs371808119 0.00004
NM_012309.5(SHANK2):c.191A>G (p.His64Arg) rs200995537 0.00003
NM_012309.5(SHANK2):c.397G>T (p.Val133Phe) rs1463147374 0.00003
NM_012309.5(SHANK2):c.722C>T (p.Ala241Val) rs749039621 0.00003
NM_017739.4(POMGNT1):c.*11del rs1391347556 0.00003
NM_012309.5(SHANK2):c.*3246G>A rs1357516309 0.00002
NM_022807.5(SNRPN):c.-636C>A rs886051013 0.00002
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys) rs371294659 0.00001
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) rs1365914320 0.00001
NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln) rs374131489 0.00001
NM_003097.6(SNRPN):c.-110T>G rs190439178 0.00001
NM_003097.6(SNRPN):c.-386C>T rs776280755 0.00001
NM_003097.6(SNRPN):c.524C>T (p.Pro175Leu) rs886051020 0.00001
NM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu) rs757972971 0.00001
NM_012309.5(SHANK2):c.*1022T>C rs1591470586 0.00001
NM_012309.5(SHANK2):c.744+8C>T rs529300603 0.00001
NM_012309.5(SHANK2):c.7C>T (p.Arg3Cys) rs373379917 0.00001
NM_012309.5(SHANK2):c.820G>A (p.Val274Ile) rs1555094289 0.00001
NM_022807.5(SNRPN):c.-504-12T>C rs886051015 0.00001
NM_022807.5(SNRPN):c.-819C>A rs886051012 0.00001
NM_022807.5(SNRPN):c.-823T>C rs886051011 0.00001
GRCh38/hg38 11p15.5(chr11:313988-723647)
GRCh38/hg38 12q24.31(chr12:123141008-123578625)
GRCh38/hg38 14q21.2-21.3(chr14:46402812-47162762)
GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)
GRCh38/hg38 18p11.21(chr18:12244578-12507815)
GRCh38/hg38 1q31.2-31.3(chr1:193733481-196205927)
GRCh38/hg38 2q13(chr2:109301667-110460985)
GRCh38/hg38 3p13(chr3:71518345-71562911)
GRCh38/hg38 4q21.21(chr4:78722180-79522307)
GRCh38/hg38 5p13.2(chr5:33977416-34745466)
GRCh38/hg38 5q13.2(chr5:71378409-72329454)
GRCh38/hg38 6q15(chr6:88638119-89726639)
GRCh38/hg38 7p15.2(chr7:25988742-26495573)
GRCh38/hg38 7q34(chr7:140901060-141011481)
GRCh38/hg38 Xq24(chrX:119146025-119709342)
NC_000002.12:g.(?_50574106)_(50580198_?)del
NC_000003.12:g.(?_175372620)_(176011214_?)del
NC_000004.12:g.(?_186013132)_(186215992_?)dup
NC_000007.13:g.(?_57260919)_(57882330_?)dup
NC_000007.14:g.(?_148411122)_(148421361_?)dup
NC_000009.12:g.27536399C>T
NC_000011.10:g.(?_48359351)_(48946475_?)del
NC_000023.11:g.(?_100366731)_(100369616_?)del
NC_000023.11:g.(?_28852188)_(28855815_?)del
NM_001003800.2(BICD2):c.1849del (p.Pro616_Leu617insTer)
NM_001039469.3(MARK2):c.905G>A (p.Arg302Gln)
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln)
NM_001161352.2(KCNMA1):c.280T>G (p.Ser94Ala)
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile) rs1888123647
NM_001197104.2(KMT2A):c.4054A>G (p.Ser1352Gly)
NM_001197104.2(KMT2A):c.9575A>C (p.Gln3192Pro)
NM_001220.5(CAMK2B):c.1528G>T (p.Glu510Ter)
NM_001256012.3(MYH10):c.3364G>T (p.Glu1122Ter)
NM_001282116.2(RFX3):c.1801T>C (p.Trp601Arg)
NM_001306215.2(ZNF827):c.590T>A (p.Leu197Ter)
NM_001318510.2(ACSL4):c.449A>T (p.His150Leu) rs374685754
NM_001330078.2(NRXN1):c.3071-1G>C
NM_001330195.2(NRXN3):c.1394C>T (p.Thr465Ile)
NM_001348800.3(ZBTB20):c.-342-50205del
NM_001353921.2(ARHGEF9):c.16G>A (p.Gly6Ser) rs2056441301
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys) rs2050115619
NM_001363540.2(DOCK4):c.2689C>T (p.Pro897Ser)
NM_001375380.1(EBF3):c.1593_1605del (p.Ser532fs)
NM_001376.5(DYNC1H1):c.10195C>T (p.Gln3399Ter)
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His) rs770451110
NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)
NM_001393499.1(BICRAL):c.579dup (p.Ile194fs)
NM_001394998.1(TANC2):c.5318A>G (p.His1773Arg) rs2049010059
NM_001395159.1(UNC79):c.5702T>C (p.Phe1901Ser) rs774688629
NM_001416.4(EIF4A1):c.931C>T (p.Arg311Ter)
NM_002547.3(OPHN1):c.188C>G (p.Thr63Arg)
NM_002831.6(PTPN6):c.1206+2T>G
NM_002971.6(SATB1):c.2194G>T (p.Val732Phe)
NM_003070.5(SMARCA2):c.4045C>T (p.Arg1349Ter)
NM_003074.4(SMARCC1):c.2236C>T (p.Arg746Ter)
NM_003097.6(SNRPN):c.-143-6C>T rs886051017
NM_003097.6(SNRPN):c.-262A>T rs765651266
NM_003097.6(SNRPN):c.-380C>T rs886051016
NM_003097.6(SNRPN):c.421-5C>T rs886051019
NM_003486.7(SLC7A5):c.737C>T (p.Ala246Val) rs2143738378
NM_003590.5(CUL3):c.883+3_883+6del
NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu)
NM_004606.5(TAF1):c.2299C>T (p.Arg767Trp) rs2034289029
NM_004883.3(NRG2):c.872+1G>A
NM_005249.5(FOXG1):c.677A>C (p.Gln226Pro)
NM_005458.8(GABBR2):c.2660+2T>G
NM_005955.3(MTF1):c.1051C>T (p.Arg351Ter)
NM_006035.4(CDC42BPB):c.3304G>A (p.Val1102Ile)
NM_006180.6(NTRK2):c.1816G>A (p.Glu606Lys)
NM_006662.3(SRCAP):c.3734G>T (p.Gly1245Val)
NM_006924.5(SRSF1):c.70C>T (p.Pro24Ser)
NM_006950.3(SYN1):c.820C>T (p.His274Tyr)
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs) rs2151062416
NM_012141.3(INTS6):c.976A>T (p.Lys326Ter)
NM_012280.4(FTSJ1):c.367G>A (p.Gly123Ser)
NM_012309.5(SHANK2):c.*1533dup rs575407872
NM_012309.5(SHANK2):c.*3067A>G rs1041628240
NM_012309.5(SHANK2):c.*4029A>C rs1170275107
NM_012309.5(SHANK2):c.1510G>A (p.Gly504Ser) rs1590704391
NM_012309.5(SHANK2):c.1636C>G (p.Pro546Ala) rs1590704143
NM_012309.5(SHANK2):c.3172C>T (p.Gln1058Ter) rs1591489959
NM_012309.5(SHANK2):c.4228C>T (p.Pro1410Ser) rs1591487375
NM_012309.5(SHANK2):c.4676G>A (p.Ser1559Asn) rs1591486517
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) rs1565526121
NM_012309.5(SHANK2):c.613G>T (p.Ala205Ser) rs189053721
NM_012309.5(SHANK2):c.745-15A>G rs1555094335
NM_012309.5(SHANK2):c.912+1134C>T rs1555093950
NM_012309.5(SHANK2):c.912+269C>T rs1555094158
NM_012309.5(SHANK2):c.912+3227G>A rs1555093479
NM_012309.5(SHANK2):c.912+3911C>G rs1209216340
NM_012309.5(SHANK2):c.912+4231G>A rs1555093271
NM_014225.6(PPP2R1A):c.1694A>G (p.Glu565Gly)
NM_014704.4(CEP104):c.830A>T (p.Glu277Val)
NM_014727.3(KMT2B):c.428C>T (p.Ser143Phe)
NM_015317.5(PUM2):c.349-2A>G
NM_015570.4(AUTS2):c.2915A>T (p.Glu972Val)
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=) rs2150279471
NM_019066.5(MAGEL2):c.843TCCAGG[1] (p.282PG[1])
NM_020699.4(GATAD2B):c.1433G>A (p.Arg478Gln)
NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)
NM_022720.7(DGCR8):c.2060_2061del (p.His687fs)
NM_022807.5(SNRPN):c.-596del rs886051014
NM_022807.5(SNRPN):c.-841T>A rs886051010
NM_022897.5(RANBP17):c.1710+75929A>G rs2127639991
NM_024570.4(RNASEH2B):c.845C>T (p.Ala282Val)
NM_025176.6(NINL):c.2086C>T (p.Gln696Ter)
NM_025176.6(NINL):c.2344G>T (p.Glu782Ter)
NM_031206.7(LAS1L):c.949G>A (p.Glu317Lys)
NM_031407.7(HUWE1):c.504+5G>A
NM_032531.4(KIRREL3):c.613C>T (p.Arg205Trp)
NM_057175.5(NAA15):c.692-5A>G
NM_153252.5(BRWD3):c.4510G>A (p.Glu1504Lys)
NM_170606.3(KMT2C):c.817G>A (p.Val273Met)
NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)
NM_181303.2(NLGN3):c.2389C>T (p.Arg797Trp)
NM_181332.3(NLGN4X):c.542C>T (p.Thr181Ile)
NM_198880.3(QRICH1):c.728A>C (p.Gln243Pro)
NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys) rs760538597
Single allele

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