ClinVar Miner

List of variants studied for autism spectrum disorder by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile)
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys)
NM_003097.5(SNRPN):c.183T>C (p.Arg61=) rs373215950
NM_003097.5(SNRPN):c.3+10A>G rs112560608
NM_012309.4(SHANK2):c.*1022T>C rs1591470586
NM_012309.4(SHANK2):c.*1533dup rs575407872
NM_012309.4(SHANK2):c.*1545T>G rs371429377
NM_012309.4(SHANK2):c.*1597T>G rs2154625
NM_012309.4(SHANK2):c.*2583T>C rs55678639
NM_012309.4(SHANK2):c.*3067A>G rs1041628240
NM_012309.4(SHANK2):c.*3245T>C rs78378706
NM_012309.4(SHANK2):c.*3246G>A rs1357516309
NM_012309.4(SHANK2):c.*3475C>G rs568643386
NM_012309.4(SHANK2):c.*3947C>G rs147625536
NM_012309.4(SHANK2):c.*4029A>C rs1170275107
NM_012309.4(SHANK2):c.*4102C>G rs61885874
NM_012309.4(SHANK2):c.*4377A>T rs513996
NM_012309.4(SHANK2):c.*585C>T rs568990616
NM_012309.4(SHANK2):c.*591C>A rs879971097
NM_012309.4(SHANK2):c.-36A>G rs3020047
NM_012309.4(SHANK2):c.136G>A (p.Gly46Ser) rs201642016
NM_012309.4(SHANK2):c.1510G>A (p.Gly504Ser) rs1590704391
NM_012309.4(SHANK2):c.1636C>G (p.Pro546Ala) rs1590704143
NM_012309.4(SHANK2):c.168G>A (p.Thr56=) rs150944234
NM_012309.4(SHANK2):c.191A>G (p.His64Arg) rs200995537
NM_012309.4(SHANK2):c.207+15C>T rs77851214
NM_012309.4(SHANK2):c.256C>A (p.Arg86=) rs377135249
NM_012309.4(SHANK2):c.3172C>T (p.Gln1058Ter) rs1591489959
NM_012309.4(SHANK2):c.332G>A (p.Arg111His) rs368652424
NM_012309.4(SHANK2):c.336C>T (p.Asp112=) rs76014490
NM_012309.4(SHANK2):c.385G>A (p.Val129Met) rs73521173
NM_012309.4(SHANK2):c.396C>A (p.Gly132=) rs148065633
NM_012309.4(SHANK2):c.397G>T (p.Val133Phe) rs1463147374
NM_012309.4(SHANK2):c.4228C>T (p.Pro1410Ser) rs1591487375
NM_012309.4(SHANK2):c.4676G>A (p.Ser1559Asn) rs1591486517
NM_012309.4(SHANK2):c.483+13C>T rs117706585
NM_012309.4(SHANK2):c.483+14G>A rs75938961
NM_012309.4(SHANK2):c.51C>T (p.Ser17=) rs376267466
NM_012309.4(SHANK2):c.520C>T (p.Arg174Cys) rs7926203
NM_012309.4(SHANK2):c.576C>T (p.His192=) rs561132233
NM_012309.4(SHANK2):c.581C>T (p.Pro194Leu) rs782210973
NM_012309.4(SHANK2):c.613G>T (p.Ala205Ser) rs189053721
NM_012309.4(SHANK2):c.625G>A (p.Asp209Asn) rs183556625
NM_012309.4(SHANK2):c.722C>T (p.Ala241Val) rs749039621
NM_012309.4(SHANK2):c.744+8C>T rs529300603
NM_012309.4(SHANK2):c.745-15A>G rs1555094335
NM_012309.4(SHANK2):c.771A>G (p.Pro257=) rs200821952
NM_012309.4(SHANK2):c.7C>T (p.Arg3Cys) rs373379917
NM_012309.4(SHANK2):c.820G>A (p.Val274Ile) rs1555094289
NM_012309.4(SHANK2):c.900C>T (p.His300=) rs529058522
NM_012309.4(SHANK2):c.912+1134C>T rs1555093950
NM_012309.4(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_022806.4(SNRPN):c.-579+6065del rs886051014
NM_022807.4(SNRPN):c.-110T>G rs190439178
NM_022807.4(SNRPN):c.-143-6C>T rs886051017
NM_022807.4(SNRPN):c.-20G>T rs763736287
NM_022807.4(SNRPN):c.-262A>T rs765651266
NM_022807.4(SNRPN):c.-274G>A rs142583293
NM_022807.4(SNRPN):c.-280C>T rs372295822
NM_022807.4(SNRPN):c.-295+8C>G rs371808119
NM_022807.4(SNRPN):c.-378C>T rs426541
NM_022807.4(SNRPN):c.-380C>T rs886051016
NM_022807.4(SNRPN):c.-386C>T rs776280755
NM_022807.4(SNRPN):c.-39G>A rs75184959
NM_022807.4(SNRPN):c.-504-12T>C rs886051015
NM_022807.4(SNRPN):c.-569C>T rs80135925
NM_022807.4(SNRPN):c.-579+5G>A rs56684653
NM_022807.4(SNRPN):c.-584A>G rs58890023
NM_022807.4(SNRPN):c.-636C>A rs886051013
NM_022807.4(SNRPN):c.-672T>C rs7170796
NM_022807.4(SNRPN):c.-819C>A rs886051012
NM_022807.4(SNRPN):c.-823T>C rs886051011
NM_022807.4(SNRPN):c.-841T>A rs886051010
NM_022807.4(SNRPN):c.-86G>A rs886051018
NM_022807.4(SNRPN):c.-89T>C rs705
NM_022807.4(SNRPN):c.421-5C>T rs886051019
NM_022807.4(SNRPN):c.524C>T (p.Pro175Leu) rs886051020

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