List of variants in gene SLC35A3 reported as likely benign for autism spectrum disorder - epilepsy - arthrogryposis syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 163

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HGVS	dbSNP	gnomAD frequency
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.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.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.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.54C>G (p.Thr18=)	rs1409412016	0.00002
NM_012243.3(SLC35A3):c.753+8A>G	rs781326156	0.00002
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.21C>T (p.Tyr7=)	rs775151826	0.00001
NM_012243.3(SLC35A3):c.252A>C (p.Thr84=)	rs760512680	0.00001
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=)	rs761280692	0.00001
NM_012243.3(SLC35A3):c.406T>C (p.Leu136=)	rs1226291849	0.00001
NM_012243.3(SLC35A3):c.439T>C (p.Leu147=)	rs1055726	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.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.780T>C (p.Ala260=)	rs1287725180	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
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.189A>G (p.Lys63=)
NM_012243.3(SLC35A3):c.201A>G (p.Arg67=)	rs748968538
NM_012243.3(SLC35A3):c.210T>C (p.Asn70=)	rs1287781530
NM_012243.3(SLC35A3):c.231T>C (p.Ile77=)
NM_012243.3(SLC35A3):c.234T>G (p.Leu78=)
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.285T>C (p.Thr95=)
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.330A>G (p.Ala110=)	rs2101197432
NM_012243.3(SLC35A3):c.339T>C (p.Tyr113=)
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+22_342+25del
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.411T>A (p.Gly137=)
NM_012243.3(SLC35A3):c.414A>G (p.Val138=)	rs988629039
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.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.513T>C (p.Ser171=)
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=)	rs1282648211
NM_012243.3(SLC35A3):c.534A>G (p.Ala178=)
NM_012243.3(SLC35A3):c.546A>T (p.Ala182=)
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.594A>G (p.Lys198=)	rs2101370023
NM_012243.3(SLC35A3):c.597A>G (p.Glu199=)
NM_012243.3(SLC35A3):c.600A>C (p.Thr200=)
NM_012243.3(SLC35A3):c.612G>A (p.Val204=)
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.635-14_635-13del
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.69A>T (p.Thr23=)
NM_012243.3(SLC35A3):c.702T>C (p.Asn234=)	rs2101424655
NM_012243.3(SLC35A3):c.726A>C (p.Arg242=)
NM_012243.3(SLC35A3):c.732C>T (p.Thr244=)
NM_012243.3(SLC35A3):c.741A>G (p.Val247=)
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.754-18del
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.771A>C (p.Val257=)
NM_012243.3(SLC35A3):c.771A>G (p.Val257=)	rs2101455469
NM_012243.3(SLC35A3):c.780T>A (p.Ala260=)	rs1287725180
NM_012243.3(SLC35A3):c.792T>C (p.Tyr264=)
NM_012243.3(SLC35A3):c.798T>C (p.Asp266=)
NM_012243.3(SLC35A3):c.807A>G (p.Leu269=)
NM_012243.3(SLC35A3):c.81C>G (p.Ser27=)
NM_012243.3(SLC35A3):c.822C>T (p.Thr274=)	rs2101456060
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+7del	rs1553204463
NM_012243.3(SLC35A3):c.887+8G>A	rs772703781
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.900T>A (p.Leu300=)
NM_012243.3(SLC35A3):c.906C>T (p.Ala302=)	rs2101501181
NM_012243.3(SLC35A3):c.945T>C (p.Asp315=)
NM_012243.3(SLC35A3):c.951A>G (p.Lys317=)
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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