ClinVar Miner

List of variants reported as uncertain significance for autism (disease)

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP
GRCh37/hg19 3q29(chr3:195457650-196263123)
GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)
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.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.70G>A (p.Ala24Thr) rs587779378
NM_000036.2(AMPD1):c.826G>A (p.Asp276Asn) rs587779379
NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala) rs796051883
NM_001127500.3(MET):c.-207= rs1858830
NM_001204403.1(ANK3):c.-739C>T
NM_001286734.2(CENPE):c.3713C>G (p.Ala1238Gly) rs1560630597
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
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_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
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.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_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_018133.4(MSL2):c.690_693TCTG[1] (p.Ser232fs)
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420
NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala)
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
Single allele

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