ClinVar Miner

List of variants reported as uncertain significance for Autism

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.1197G>A (p.Ala399=) rs11237599 0.15569
NM_001204403.1(ANK3):c.-739C>T rs112339619 0.03697
NM_001330195.2(NRXN3):c.3262+210045A>G rs12432103 0.03172
NM_001330195.2(NRXN3):c.758-160258G>A rs117696080 0.01113
NM_012309.5(SHANK2):c.1706G>A (p.Arg569His) rs146580493 0.00779
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His) rs117843717 0.00410
NM_012309.5(SHANK2):c.1289C>T (p.Ala430Val) rs113262375 0.00350
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_012309.5(SHANK2):c.1759C>T (p.Pro587Ser) rs149996975 0.00094
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=) rs367676023 0.00050
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln) rs563243550 0.00016
NM_001372044.2(SHANK3):c.4441C>G (p.Leu1481Val) rs201973139 0.00010
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys) rs587779370 0.00006
NM_033656.4(BRWD1):c.2352G>A (p.Ser784=) rs918131106 0.00006
NM_001077242.2(DEPDC7):c.763A>T (p.Lys255Ter) rs201199439 0.00005
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys) rs200835381 0.00005
NM_012309.5(SHANK2):c.1716C>T (p.Ile572=) rs782240808 0.00004
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter) rs764720544 0.00004
NM_000036.3(AMPD1):c.-69C>G rs587779375 0.00003
NM_001387690.1(KATNAL2):c.739C>T (p.His247Tyr) rs1569106508 0.00002
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu) rs768629864 0.00002
NM_000036.3(AMPD1):c.-30G>A rs587779378 0.00001
NM_000036.3(AMPD1):c.509A>T (p.Asp170Val) rs572362619 0.00001
NM_000036.3(AMPD1):c.727G>A (p.Asp243Asn) rs587779379 0.00001
NM_001372044.2(SHANK3):c.4377C>T (p.Thr1459=) rs1264636649 0.00001
NM_014712.3(SETD1A):c.650G>A (p.Arg217His) rs1034310028 0.00001
NM_015080.4(NRXN2):c.3410C>T (p.Thr1137Ile) rs150390440 0.00001
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420 0.00001
GRCh37/hg19 1q43(chr1:240857677-243316822)x3
GRCh37/hg19 20p12.3(chr20:7106057-8085390)x3
GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1
GRCh37/hg19 2q11.1(chr2:95945437-96259086)x3
GRCh37/hg19 Xp22.33(chrX:566009-1262195)x3
GRCh37/hg19 Xp22.33(chrX:566009-1356042)x3
GRCh37/hg19 Xq28(chrX:152228560-153146794)x2
GRCh37/hg19 Yp11.32(chrY:516009-1306042)x3
GRCh37/hg19 Yq11.223-11.23(chrY:25856867-28113239)x2
NC_000009.12:g.73165555_73173279dup
NM_000036.3(AMPD1):c.1350C>G (p.Cys450Trp) rs587779369
NM_000036.3(AMPD1):c.1615C>T (p.Pro539Ser) rs587779372
NM_000036.3(AMPD1):c.1778C>G (p.Ser593Cys) rs587779373
NM_000036.3(AMPD1):c.1943C>T (p.Thr648Ile) rs587779374
NM_000036.3(AMPD1):c.507T>G (p.Ile169Met) rs542684385
NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala) rs796051883
NM_001039763.4(TMEM232):c.476A>G (p.Tyr159Cys)
NM_001040118.3(ARAP1):c.2522G>A (p.Trp841Ter)
NM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu) rs766530029
NM_001148.6(ANK2):c.9905C>G (p.Ser3302Cys) rs2095969252
NM_001197294.2(DPYSL3):c.655A>C (p.Ile219Leu)
NM_001281956.2(CSMD2):c.5984G>A (p.Arg1995Gln)
NM_001303052.2(MYT1L):c.3200A>T (p.Gln1067Leu)
NM_001303512.2(PDZD4):c.923C>T (p.Pro308Leu)
NM_001318852.2(MAPK8IP3):c.1406C>G (p.Ala469Gly)
NM_001329998.2(TRANK1):c.818A>G (p.Glu273Gly)
NM_001372044.2(SHANK3):c.431A>G (p.Asp144Gly) rs1005062028
NM_001372044.2(SHANK3):c.4401C>G (p.Leu1467=) rs906873431
NM_001813.3(CENPE):c.3788C>G (p.Ala1263Gly) rs1560630597
NM_002066.3(GML):c.28A>G (p.Met10Val)
NM_003024.3(ITSN1):c.2405A>C (p.Glu802Ala)
NM_003756.3(EIF3H):c.50C>G (p.Ser17Cys)
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_005660.3(SLC35A2):c.1069G>C (p.Gly357Arg)
NM_006154.4(NEDD4):c.291+9303G>A
NM_006467.3(POLR3G):c.103C>A (p.Pro35Thr)
NM_007327.4(GRIN1):c.1184C>G (p.Ser395Cys) rs2131280889
NM_014520.4(MYBBP1A):c.139C>T (p.Gln47Ter) rs758083465
NM_016121.5(KCTD3):c.997A>T (p.Asn333Tyr)
NM_016151.4(TAOK2):c.492A>T (p.Leu164Phe)
NM_017514.5(PLXNA3):c.1691A>G (p.Asn564Ser)
NM_017727.5(TMEM214):c.937G>A (p.Gly313Ser)
NM_018133.4(MSL2):c.1102del (p.Ala368fs)
NM_018133.4(MSL2):c.694_697del (p.Ser232fs) rs1576352885
NM_018323.4(PI4K2B):c.807G>C (p.Trp269Cys)
NM_024757.5(EHMT1):c.1474A>G (p.Lys492Glu) rs2136274679
NM_032108.4(SEMA6B):c.1153T>C (p.Tyr385His) rs1977288029
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) rs864309507
NM_139058.3(ARX):c.1358T>G (p.Leu453Arg) rs2147320389
NM_145314.3(UCMA):c.17_220+223del rs2131608474
NM_207307.3(EFCAB12):c.39G>C (p.Leu13Phe)
Single allele

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