ClinVar Miner

List of variants studied for autism (disease)

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
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HGVS dbSNP
16p11.2 recurrent region (BP4-BP5)
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432)
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896)
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505)
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)
GRCh37/hg19 16p11.2(chr16:29042050-30199025)
GRCh37/hg19 16p11.2(chr16:29595483-30199713)
GRCh37/hg19 16p11.2(chr16:29673203-30133233)
GRCh37/hg19 16p11.2(chr16:29673203-30199713)
GRCh37/hg19 16p11.2(chr16:29678569-30199402)
GRCh37/hg19 3q29(chr3:195457650-196263123)
GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
NM_000036.2(AMPD1):c.1449C>G (p.Cys483Trp) rs587779369
NM_000036.2(AMPD1):c.1498C>T (p.Arg500Cys) rs587779370
NM_000036.2(AMPD1):c.1569C>T (p.Thr523=) rs587779371
NM_000036.2(AMPD1):c.1714C>T (p.Pro572Ser) rs587779372
NM_000036.2(AMPD1):c.1877C>G (p.Ser626Cys) rs587779373
NM_000036.2(AMPD1):c.2042C>T (p.Thr681Ile) rs587779374
NM_000036.2(AMPD1):c.31C>G (p.Gln11Glu) rs587779375
NM_000036.2(AMPD1):c.606T>G (p.Ile202Met) rs542684385
NM_000036.2(AMPD1):c.608A>T (p.Asp203Val) rs572362619
NM_000036.2(AMPD1):c.639C>T (p.Phe213=) rs587779376
NM_000036.2(AMPD1):c.702T>A (p.Pro234=) rs587779377
NM_000036.2(AMPD1):c.70G>A (p.Ala24Thr) rs587779378
NM_000036.2(AMPD1):c.826G>A (p.Asp276Asn) rs587779379
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala) rs796051883
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) rs797046134
NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) rs1057518658
NM_001042537.1(SLC9A6):c.1728-19_1728-3del rs1569525894
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter) rs1057518993
NM_001127500.3(MET):c.-207= rs1858830
NM_001204403.1(ANK3):c.-739C>T
NM_001286209.1(GAS8):c.15+1487_15+1488insGCTGCCCCGCAG rs1555648296
NM_001286734.2(CENPE):c.3713C>G (p.Ala1238Gly) rs1560630597
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001330195.2(NRXN3):c.3262+210045A>G
NM_001330195.2(NRXN3):c.758-160258G>A
NM_001427.4(EN2):c.686-1073G>A rs1861972
NM_001427.4(EN2):c.686-921T>C rs1861973
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)
NM_003593.2(FOXN1):c.146C>T (p.Ser49Leu) rs797046135
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005650.3(TCF20):c.1810_1811del (p.Val604fs) rs1569151204
NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter) rs1569149539
NM_006186.4(NR4A2):c.357G>T (p.Ser119=) rs797046133
NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu) rs1553510677
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys) rs1559060428
NM_006708.3(GLO1):c.332A>C (p.Glu111Ala) rs4746
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.6(SCN1A):c.3068T>C (p.Ile1023Thr) rs121918818
NM_012309.4(SHANK2):c.1197G>A (p.Ala399=) rs11237599
NM_012309.4(SHANK2):c.1289C>T (p.Ala430Val) rs113262375
NM_012309.4(SHANK2):c.1706G>A (p.Arg569His) rs146580493
NM_012309.4(SHANK2):c.1716C>T (p.Ile572=) rs782240808
NM_012309.4(SHANK2):c.1759C>T (p.Pro587Ser) rs149996975
NM_012309.4(SHANK2):c.1896dup (p.Asp633fs) rs1555013332
NM_012309.4(SHANK2):c.2333C>G (p.Ala778Gly) rs1555156140
NM_012309.4(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_012309.4(SHANK2):c.3454dup (p.Glu1152fs) rs1565529155
NM_012309.4(SHANK2):c.3704A>G (p.Lys1235Arg) rs1350344796
NM_012309.4(SHANK2):c.451G>T (p.Asp151Tyr) rs967203648
NM_012309.4(SHANK2):c.4822G>A (p.Val1608Ile) rs543988574
NM_012309.4(SHANK2):c.4991T>C (p.Ile1664Thr) rs150857128
NM_014191.4(SCN8A):c.4892T>C (p.Ile1631Thr)
NM_014520.4(MYBBP1A):c.139C>T (p.Gln47Ter) rs758083465
NM_015570.4(AUTS2):c.3169G>A (p.Gly1057Ser) rs1057522609
NM_015570.4(AUTS2):c.3377_3379ACC[9] (p.His1133dup) rs538005366
NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys) rs149367480
NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) rs1057519440
NM_018133.4(MSL2):c.690_693TCTG[1] (p.Ser232fs)
NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) rs1555741826
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) rs1555740394
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420
NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala)
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_032682.5(FOXP1):c.1348+1G>C rs1559619762
NM_032682.5(FOXP1):c.1348+2T>C rs1057518999
NM_033517.1(SHANK3):c.206A>G (p.Asp69Gly) rs1005062028
NM_033517.1(SHANK3):c.3813C>T (p.Gly1271=) rs367676023
NM_033517.1(SHANK3):c.4152C>T (p.Thr1384=) rs1264636649
NM_033517.1(SHANK3):c.4176C>G (p.Leu1392=) rs906873431
NM_033517.1(SHANK3):c.4216C>G (p.Leu1406Val) rs201973139
NM_033656.4(BRWD1):c.2352G>A (p.Ser784=)
NM_130838.3(UBE3A):c.1363A>G (p.Met455Val) rs864309507
NM_172171.2(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_175929.2(FGF14):c.501dup (p.Arg168fs) rs1566823361
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) rs1568070621
SHANK2, 120-KB DEL
SHANK2, 69-KB DEL
SHANK2, ARG462TER
Single allele
TBR1, 1-BP DEL, C
TBR1, 1-BP INS, C
TBR1, ASN374HIS
TBR1, LYS228GLU

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