ClinVar Miner

List of variants in gene SLC35A3 studied for autism spectrum disorder - epilepsy - arthrogryposis syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_012243.3(SLC35A3):c.357A>G (p.Leu119=) rs534252 0.22875
NM_012243.3(SLC35A3):c.-19+415A>G rs11166383 0.03792
NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile) rs74102304 0.03461
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile) rs151009402 0.00095
NM_012243.3(SLC35A3):c.63T>G (p.Val21=) rs141542767 0.00038
NM_012243.3(SLC35A3):c.933G>A (p.Leu311=) rs139479346 0.00034
NM_012243.3(SLC35A3):c.753+9T>G rs200265486 0.00027
NM_012243.3(SLC35A3):c.599C>G (p.Thr200Arg) rs759966591 0.00019
NM_012243.3(SLC35A3):c.187+13G>A rs373777045 0.00014
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=) rs370315911 0.00010
NM_012243.3(SLC35A3):c.348G>A (p.Thr116=) rs574333514 0.00006
NM_012243.3(SLC35A3):c.525A>G (p.Gly175=) rs374048002 0.00006
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) rs141952252 0.00006
NM_012243.3(SLC35A3):c.409G>A (p.Gly137Ser) rs764989689 0.00005
NM_012243.3(SLC35A3):c.754-10A>T rs765112592 0.00005
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=) rs773812783 0.00004
NM_012243.3(SLC35A3):c.42C>G (p.Val14=) rs761558203 0.00004
NM_012243.3(SLC35A3):c.680dup (p.Asp227fs) rs866803539 0.00004
NM_012243.3(SLC35A3):c.748C>T (p.Leu250Phe) rs137902416 0.00004
NM_012243.3(SLC35A3):c.278T>C (p.Ile93Thr) rs775651587 0.00003
NM_012243.3(SLC35A3):c.301C>T (p.Leu101=) rs374410007 0.00003
NM_012243.3(SLC35A3):c.543A>T (p.Thr181=) rs746093643 0.00003
NM_012243.3(SLC35A3):c.765C>T (p.Gly255=) rs1226277790 0.00003
NM_012243.3(SLC35A3):c.888-6A>G rs911464311 0.00003
NM_012243.3(SLC35A3):c.114A>G (p.Leu38=) rs757521726 0.00002
NM_012243.3(SLC35A3):c.282T>C (p.Tyr94=) rs912076311 0.00002
NM_012243.3(SLC35A3):c.347C>T (p.Thr116Met) rs774263178 0.00002
NM_012243.3(SLC35A3):c.54C>G (p.Thr18=) rs1409412016 0.00002
NM_012243.3(SLC35A3):c.74G>A (p.Arg25His) rs903783945 0.00002
NM_012243.3(SLC35A3):c.753+8A>G rs781326156 0.00002
NM_012243.3(SLC35A3):c.107G>A (p.Arg36His) rs747574982 0.00001
NM_012243.3(SLC35A3):c.187+5G>A rs1327580386 0.00001
NM_012243.3(SLC35A3):c.188-10T>C rs1184385628 0.00001
NM_012243.3(SLC35A3):c.198A>G (p.Leu66=) rs779900260 0.00001
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter) rs778502240 0.00001
NM_012243.3(SLC35A3):c.21C>T (p.Tyr7=) rs775151826 0.00001
NM_012243.3(SLC35A3):c.252A>C (p.Thr84=) rs760512680 0.00001
NM_012243.3(SLC35A3):c.329C>G (p.Ala110Gly) rs1157464372 0.00001
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=) rs761280692 0.00001
NM_012243.3(SLC35A3):c.405A>C (p.Lys135Asn) rs754559092 0.00001
NM_012243.3(SLC35A3):c.406T>C (p.Leu136=) rs1226291849 0.00001
NM_012243.3(SLC35A3):c.40G>A (p.Val14Ile) rs1392040093 0.00001
NM_012243.3(SLC35A3):c.439T>C (p.Leu147=) rs1055726 0.00001
NM_012243.3(SLC35A3):c.44T>C (p.Phe15Ser) rs951750313 0.00001
NM_012243.3(SLC35A3):c.452T>A (p.Val151Asp) rs1415934934 0.00001
NM_012243.3(SLC35A3):c.465+7A>C rs1460106177 0.00001
NM_012243.3(SLC35A3):c.466-5T>C rs767037243 0.00001
NM_012243.3(SLC35A3):c.470C>T (p.Pro157Leu) rs890225731 0.00001
NM_012243.3(SLC35A3):c.528C>T (p.Leu176=) rs1176598016 0.00001
NM_012243.3(SLC35A3):c.540C>T (p.Leu180=) rs1031141712 0.00001
NM_012243.3(SLC35A3):c.546A>G (p.Ala182=) rs745812553 0.00001
NM_012243.3(SLC35A3):c.585A>G (p.Lys195=) rs747139028 0.00001
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=) rs370227291 0.00001
NM_012243.3(SLC35A3):c.6C>T (p.Phe2=) rs745545998 0.00001
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys) rs753997682 0.00001
NM_012243.3(SLC35A3):c.754-3C>T rs752607628 0.00001
NM_012243.3(SLC35A3):c.780T>C (p.Ala260=) rs1287725180 0.00001
NM_012243.3(SLC35A3):c.842C>A (p.Ser281Ter) rs1660258358 0.00001
NM_012243.3(SLC35A3):c.927T>G (p.Thr309=) rs753983040 0.00001
NM_012243.3(SLC35A3):c.942T>C (p.Tyr314=) rs1462890927 0.00001
NM_012243.3(SLC35A3):c.957A>G (p.Ala319=) rs139278027 0.00001
NM_012243.3(SLC35A3):c.975A>G (p.Ala325=) rs1425121794 0.00001
NC_000001.10:g.(?_100436083)_(100477099_?)del
NC_000001.10:g.(?_100436083)_(100480986_?)del
NC_000001.10:g.(?_100459083)_(100459307_?)del
NC_000001.10:g.(?_100472580)_(100472722_?)del
NC_000001.10:g.(?_100472580)_(100477099_?)del
NC_000001.11:g.(?_100007014)_(100011553_?)del
NM_012243.3(SLC35A3):c.-18-1G>T rs2101132521
NM_012243.3(SLC35A3):c.103C>A (p.Pro35Thr) rs1199734991
NM_012243.3(SLC35A3):c.11A>C (p.Asn4Thr) rs1658214274
NM_012243.3(SLC35A3):c.120T>A (p.Ser40=)
NM_012243.3(SLC35A3):c.123A>G (p.Thr41=)
NM_012243.3(SLC35A3):c.126A>C (p.Ala42=)
NM_012243.3(SLC35A3):c.12C>T (p.Asn4=) rs1658214469
NM_012243.3(SLC35A3):c.147G>A (p.Leu49=)
NM_012243.3(SLC35A3):c.150G>A (p.Lys50=) rs2101133972
NM_012243.3(SLC35A3):c.168A>G (p.Leu56=)
NM_012243.3(SLC35A3):c.174C>G (p.Val58=) rs1403560766
NM_012243.3(SLC35A3):c.174C>T (p.Val58=) rs1403560766
NM_012243.3(SLC35A3):c.177C>T (p.Tyr59=) rs1570588627
NM_012243.3(SLC35A3):c.183C>T (p.Asp61=)
NM_012243.3(SLC35A3):c.187+10T>C rs2101134310
NM_012243.3(SLC35A3):c.187+18_187+19dup
NM_012243.3(SLC35A3):c.187+20G>T
NM_012243.3(SLC35A3):c.187+9C>A
NM_012243.3(SLC35A3):c.188-12_188-11del
NM_012243.3(SLC35A3):c.188-14A>T
NM_012243.3(SLC35A3):c.188-1G>T
NM_012243.3(SLC35A3):c.189A>G (p.Lys63=)
NM_012243.3(SLC35A3):c.191G>A (p.Cys64Tyr) rs1658606601
NM_012243.3(SLC35A3):c.194G>T (p.Ser65Ile) rs1658606953
NM_012243.3(SLC35A3):c.201A>G (p.Arg67=) rs748968538
NM_012243.3(SLC35A3):c.205del (p.Ala68_Leu69insTer)
NM_012243.3(SLC35A3):c.210T>C (p.Asn70=) rs1287781530
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter) rs775151826
NM_012243.3(SLC35A3):c.231T>C (p.Ile77=)
NM_012243.3(SLC35A3):c.234T>G (p.Leu78=)
NM_012243.3(SLC35A3):c.234_235insTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGATGAAATTCTT (p.Asn79fs) rs2101195764
NM_012243.3(SLC35A3):c.248A>C (p.Glu83Ala)
NM_012243.3(SLC35A3):c.264T>C (p.Ala88=) rs1570597448
NM_012243.3(SLC35A3):c.267T>A (p.Ile89=) rs2101196455
NM_012243.3(SLC35A3):c.269C>T (p.Pro90Leu)
NM_012243.3(SLC35A3):c.285T>C (p.Thr95=)
NM_012243.3(SLC35A3):c.287_288del (p.Leu96fs)
NM_012243.3(SLC35A3):c.28C>T (p.Leu10=)
NM_012243.3(SLC35A3):c.300A>G (p.Leu100=) rs2101196904
NM_012243.3(SLC35A3):c.303G>A (p.Leu101=) rs1265111632
NM_012243.3(SLC35A3):c.313C>T (p.Leu105=)
NM_012243.3(SLC35A3):c.327T>C (p.Asp109=) rs2101197308
NM_012243.3(SLC35A3):c.328G>A (p.Ala110Thr) rs1658616708
NM_012243.3(SLC35A3):c.330A>G (p.Ala110=) rs2101197432
NM_012243.3(SLC35A3):c.339T>C (p.Tyr113=)
NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)
NM_012243.3(SLC35A3):c.342+12A>G
NM_012243.3(SLC35A3):c.342+14A>G
NM_012243.3(SLC35A3):c.342+18C>A
NM_012243.3(SLC35A3):c.342+18_342+19del
NM_012243.3(SLC35A3):c.342+1G>A rs1553201582
NM_012243.3(SLC35A3):c.342+22_342+25del
NM_012243.3(SLC35A3):c.342+4C>T rs1658617673
NM_012243.3(SLC35A3):c.343-14G>C
NM_012243.3(SLC35A3):c.343-15T>C
NM_012243.3(SLC35A3):c.343-18T>C
NM_012243.3(SLC35A3):c.348G>T (p.Thr116=) rs574333514
NM_012243.3(SLC35A3):c.355T>C (p.Leu119=) rs1297581482
NM_012243.3(SLC35A3):c.384T>G (p.Ser128=) rs2101309506
NM_012243.3(SLC35A3):c.38del (p.Leu13fs) rs2101133098
NM_012243.3(SLC35A3):c.411T>A (p.Gly137=)
NM_012243.3(SLC35A3):c.414A>G (p.Val138=) rs988629039
NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter)
NM_012243.3(SLC35A3):c.429C>T (p.Ser143=)
NM_012243.3(SLC35A3):c.42C>A (p.Val14=)
NM_012243.3(SLC35A3):c.430C>T (p.Leu144=)
NM_012243.3(SLC35A3):c.45del (p.Gln16fs)
NM_012243.3(SLC35A3):c.462A>G (p.Val154=) rs1659292291
NM_012243.3(SLC35A3):c.465+18G>A
NM_012243.3(SLC35A3):c.466-12C>T
NM_012243.3(SLC35A3):c.466-18A>G
NM_012243.3(SLC35A3):c.466-9_466-7del
NM_012243.3(SLC35A3):c.471C>A (p.Pro157=)
NM_012243.3(SLC35A3):c.471C>T (p.Pro157=) rs1269158450
NM_012243.3(SLC35A3):c.474A>G (p.Ser158=)
NM_012243.3(SLC35A3):c.477T>G (p.Asp159Glu)
NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter) rs1553203137
NM_012243.3(SLC35A3):c.49A>G (p.Thr17Ala) rs1334259370
NM_012243.3(SLC35A3):c.513T>C (p.Ser171=)
NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter) rs398122524
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=) rs1282648211
NM_012243.3(SLC35A3):c.520del (p.Phe173_Val174insTer) rs1659624849
NM_012243.3(SLC35A3):c.534A>G (p.Ala178=)
NM_012243.3(SLC35A3):c.546A>T (p.Ala182=)
NM_012243.3(SLC35A3):c.548G>A (p.Cys183Tyr) rs1184691007
NM_012243.3(SLC35A3):c.549T>C (p.Cys183=) rs2101369309
NM_012243.3(SLC35A3):c.561C>T (p.Gly187=) rs112451945
NM_012243.3(SLC35A3):c.570G>A (p.Gly190=) rs1456464744
NM_012243.3(SLC35A3):c.570G>T (p.Gly190=)
NM_012243.3(SLC35A3):c.579T>C (p.Phe193=)
NM_012243.3(SLC35A3):c.588_589del (p.Leu197fs)
NM_012243.3(SLC35A3):c.594A>G (p.Lys198=) rs2101370023
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs) rs1332257684
NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter) rs2101370069
NM_012243.3(SLC35A3):c.597A>G (p.Glu199=)
NM_012243.3(SLC35A3):c.600A>C (p.Thr200=)
NM_012243.3(SLC35A3):c.605_606insGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACAACAGAGCAAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAACA (p.Ser203fs)
NM_012243.3(SLC35A3):c.609_610del (p.Trp205fs)
NM_012243.3(SLC35A3):c.612G>A (p.Val204=)
NM_012243.3(SLC35A3):c.615G>A (p.Trp205Ter)
NM_012243.3(SLC35A3):c.624T>C (p.Asn208=) rs1010621391
NM_012243.3(SLC35A3):c.634+11_634+12dup
NM_012243.3(SLC35A3):c.634+12A>G
NM_012243.3(SLC35A3):c.634+15T>G
NM_012243.3(SLC35A3):c.634+2dup rs1570615526
NM_012243.3(SLC35A3):c.635-14_635-13del
NM_012243.3(SLC35A3):c.635-2A>T
NM_012243.3(SLC35A3):c.635-3del rs766308423
NM_012243.3(SLC35A3):c.635-3dup
NM_012243.3(SLC35A3):c.635-5_635-3del rs766308423
NM_012243.3(SLC35A3):c.63T>A (p.Val21=) rs141542767
NM_012243.3(SLC35A3):c.645A>T (p.Gly215=) rs2101423658
NM_012243.3(SLC35A3):c.669A>G (p.Val223=) rs2101424040
NM_012243.3(SLC35A3):c.672C>T (p.Tyr224=) rs1660022175
NM_012243.3(SLC35A3):c.687A>G (p.Glu229=)
NM_012243.3(SLC35A3):c.693A>G (p.Val231=) rs2101424477
NM_012243.3(SLC35A3):c.699del (p.Asn234fs)
NM_012243.3(SLC35A3):c.69A>T (p.Thr23=)
NM_012243.3(SLC35A3):c.700A>G (p.Asn234Asp) rs1557844477
NM_012243.3(SLC35A3):c.702T>C (p.Asn234=) rs2101424655
NM_012243.3(SLC35A3):c.711dup (p.Gln238fs) rs1316448163
NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter) rs1660025629
NM_012243.3(SLC35A3):c.725G>A (p.Arg242Gln) rs760633616
NM_012243.3(SLC35A3):c.726A>C (p.Arg242=)
NM_012243.3(SLC35A3):c.732C>T (p.Thr244=)
NM_012243.3(SLC35A3):c.735G>A (p.Trp245Ter)
NM_012243.3(SLC35A3):c.736A>G (p.Ile246Val)
NM_012243.3(SLC35A3):c.738A>G (p.Ile246Met)
NM_012243.3(SLC35A3):c.741A>G (p.Val247=)
NM_012243.3(SLC35A3):c.74G>T (p.Arg25Leu) rs903783945
NM_012243.3(SLC35A3):c.751C>T (p.Gln251Ter) rs1660027548
NM_012243.3(SLC35A3):c.753+12A>G
NM_012243.3(SLC35A3):c.753+15G>A
NM_012243.3(SLC35A3):c.753+16T>C
NM_012243.3(SLC35A3):c.753+7C>T
NM_012243.3(SLC35A3):c.753+8A>T
NM_012243.3(SLC35A3):c.753G>A (p.Gln251=) rs1660027769
NM_012243.3(SLC35A3):c.754-18del
NM_012243.3(SLC35A3):c.754-1G>T
NM_012243.3(SLC35A3):c.754_755del (p.Ala252fs)
NM_012243.3(SLC35A3):c.756A>G (p.Ala252=)
NM_012243.3(SLC35A3):c.756A>T (p.Ala252=)
NM_012243.3(SLC35A3):c.759T>C (p.Leu253=) rs2101455187
NM_012243.3(SLC35A3):c.762A>T (p.Gly254=) rs2101455378
NM_012243.3(SLC35A3):c.762_763dup (p.Gly255fs) rs1570625903
NM_012243.3(SLC35A3):c.76T>A (p.Tyr26Asn)
NM_012243.3(SLC35A3):c.771A>C (p.Val257=)
NM_012243.3(SLC35A3):c.771A>G (p.Val257=) rs2101455469
NM_012243.3(SLC35A3):c.778G>C (p.Ala260Pro) rs1557846118
NM_012243.3(SLC35A3):c.780T>A (p.Ala260=) rs1287725180
NM_012243.3(SLC35A3):c.783del (p.Ile262fs)
NM_012243.3(SLC35A3):c.792T>C (p.Tyr264=)
NM_012243.3(SLC35A3):c.796G>T (p.Asp266Tyr)
NM_012243.3(SLC35A3):c.798T>C (p.Asp266=)
NM_012243.3(SLC35A3):c.807A>G (p.Leu269=)
NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)
NM_012243.3(SLC35A3):c.81C>G (p.Ser27=)
NM_012243.3(SLC35A3):c.822C>T (p.Thr274=) rs2101456060
NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs)
NM_012243.3(SLC35A3):c.827T>C (p.Leu276Ser) rs1553204431
NM_012243.3(SLC35A3):c.831G>A (p.Ser277=) rs749734512
NM_012243.3(SLC35A3):c.843A>C (p.Ser281=)
NM_012243.3(SLC35A3):c.846A>G (p.Thr282=)
NM_012243.3(SLC35A3):c.852C>A (p.Ile284=)
NM_012243.3(SLC35A3):c.858T>C (p.Tyr286=) rs1368296616
NM_012243.3(SLC35A3):c.885C>T (p.Thr295=) rs1220907691
NM_012243.3(SLC35A3):c.887+13_887+17del rs552844460
NM_012243.3(SLC35A3):c.887+17T>G
NM_012243.3(SLC35A3):c.887+25dup
NM_012243.3(SLC35A3):c.887+7del rs1553204463
NM_012243.3(SLC35A3):c.887+8G>A rs772703781
NM_012243.3(SLC35A3):c.887G>A (p.Ser296Asn) rs1310530690
NM_012243.3(SLC35A3):c.888-10T>A rs750539187
NM_012243.3(SLC35A3):c.888-13del
NM_012243.3(SLC35A3):c.891C>A (p.Val297=)
NM_012243.3(SLC35A3):c.894T>C (p.Phe298=)
NM_012243.3(SLC35A3):c.899_900delinsA (p.Leu300fs) rs2101501082
NM_012243.3(SLC35A3):c.900T>A (p.Leu300=)
NM_012243.3(SLC35A3):c.906C>T (p.Ala302=) rs2101501181
NM_012243.3(SLC35A3):c.92AAG[2] (p.Glu33del)
NM_012243.3(SLC35A3):c.945T>C (p.Asp315=)
NM_012243.3(SLC35A3):c.951A>G (p.Lys317=)
NM_012243.3(SLC35A3):c.959G>A (p.Gly320Glu) rs1553205151
NM_012243.3(SLC35A3):c.966C>T (p.Pro322=) rs1406942729
NM_012243.3(SLC35A3):c.96A>G (p.Glu32=)
NM_012243.3(SLC35A3):c.975A>C (p.Ala325=)

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