ClinVar Miner

List of variants reported as uncertain significance for Autism spectrum disorder by Illumina Laboratory Services, Illumina

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Total variants: 65
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HGVS dbSNP gnomAD frequency
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.576C>T (p.His192=) rs561132233 0.00006
NM_003097.6(SNRPN):c.-20G>T rs763736287 0.00005
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_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_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_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
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile) rs1888123647
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_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.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_022807.5(SNRPN):c.-596del rs886051014
NM_022807.5(SNRPN):c.-841T>A rs886051010

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