List of variants in gene UNC93B1 reported as likely benign for encephalomyelitis

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: 140

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HGVS	dbSNP	gnomAD frequency
NM_030930.4(UNC93B1):c.1724C>A (p.Pro575His)	rs535779712	0.00599
NM_030930.4(UNC93B1):c.393-10C>T	rs117183629	0.00314
NM_030930.4(UNC93B1):c.1629G>A (p.Glu543=)	rs576491436	0.00205
NM_030930.4(UNC93B1):c.1701A>G (p.Ala567=)	rs2375180	0.00123
NM_030930.4(UNC93B1):c.1720G>C (p.Glu574Gln)	rs567070908	0.00101
NM_030930.4(UNC93B1):c.392+11C>T	rs201729211	0.00064
NM_030930.4(UNC93B1):c.444C>T (p.Leu148=)	rs368427313	0.00063
NM_030930.4(UNC93B1):c.1779G>A (p.Gly593=)	rs2375183	0.00056
NM_030930.4(UNC93B1):c.782-16C>A	rs373991204	0.00048
NM_030930.4(UNC93B1):c.1560G>C (p.Arg520=)	rs555389039	0.00043
NM_030930.4(UNC93B1):c.642G>A (p.Ala214=)	rs201137048	0.00038
NM_030930.4(UNC93B1):c.1090-6C>A	rs1168664658	0.00034
NM_030930.4(UNC93B1):c.555-17T>C	rs181702078	0.00026
NM_030930.4(UNC93B1):c.1200A>G (p.Pro400=)	rs774307547	0.00020
NM_030930.4(UNC93B1):c.1125G>T (p.Leu375=)	rs980717452	0.00011
NM_030930.4(UNC93B1):c.666C>T (p.Ala222=)	rs772782644	0.00008
NM_030930.4(UNC93B1):c.1483-8dup	rs1192596291	0.00007
NM_030930.4(UNC93B1):c.1137C>T (p.Leu379=)	rs764421337	0.00004
NM_030930.4(UNC93B1):c.1338T>C (p.Ser446=)	rs755192561	0.00004
NM_030930.4(UNC93B1):c.1363+8T>C	rs1274107709	0.00004
NM_030930.4(UNC93B1):c.1482+16G>T	rs369488563	0.00004
NM_030930.4(UNC93B1):c.781+19T>C	rs376118889	0.00004
NM_030930.4(UNC93B1):c.1071C>T (p.Ala357=)	rs796106217	0.00003
NM_030930.4(UNC93B1):c.1383C>T (p.Tyr461=)	rs893814016	0.00003
NM_030930.4(UNC93B1):c.1773A>G (p.Gly591=)	rs4014578	0.00003
NM_030930.4(UNC93B1):c.702C>T (p.Cys234=)	rs772974041	0.00003
NM_030930.4(UNC93B1):c.87C>T (p.Pro29=)	rs937751489	0.00003
NM_030930.4(UNC93B1):c.1101G>A (p.Val367=)	rs1194951140	0.00002
NM_030930.4(UNC93B1):c.1215G>C (p.Leu405=)	rs1055846	0.00002
NM_030930.4(UNC93B1):c.239-8G>C	rs780105695	0.00002
NM_030930.4(UNC93B1):c.348C>T (p.Asn116=)	rs889626957	0.00002
NM_030930.4(UNC93B1):c.423C>T (p.Leu141=)	rs181167380	0.00002
NM_030930.4(UNC93B1):c.75C>A (p.Val25=)	rs1354326862	0.00002
NM_030930.4(UNC93B1):c.781+7C>T	rs756037451	0.00002
NM_030930.4(UNC93B1):c.1089+20G>A	rs1347456889	0.00001
NM_030930.4(UNC93B1):c.1095T>C (p.Tyr365=)	rs1443845527	0.00001
NM_030930.4(UNC93B1):c.1185G>A (p.Leu395=)	rs1030781708	0.00001
NM_030930.4(UNC93B1):c.1242G>C (p.Leu414=)	rs1259991700	0.00001
NM_030930.4(UNC93B1):c.1341C>T (p.Ala447=)	rs1250680725	0.00001
NM_030930.4(UNC93B1):c.1364-6C>G	rs755175158	0.00001
NM_030930.4(UNC93B1):c.243C>A (p.Leu81=)	rs751477522	0.00001
NM_030930.4(UNC93B1):c.392+7G>A	rs1191167573	0.00001
NM_030930.4(UNC93B1):c.393-4G>A	rs775653744	0.00001
NM_030930.4(UNC93B1):c.438C>T (p.Tyr146=)	rs377018744	0.00001
NM_030930.4(UNC93B1):c.554+9G>C	rs769608897	0.00001
NM_030930.4(UNC93B1):c.618G>A (p.Gln206=)	rs1435279681	0.00001
NM_030930.4(UNC93B1):c.636C>G (p.Ser212=)	rs1405982265	0.00001
NM_030930.4(UNC93B1):c.639C>T (p.His213=)	rs576190829	0.00001
NM_030930.4(UNC93B1):c.645C>T (p.Pro215=)	rs964204752	0.00001
NM_030930.4(UNC93B1):c.654G>A (p.Leu218=)	rs562832097	0.00001
NM_030930.4(UNC93B1):c.696C>T (p.Phe232=)	rs766090062	0.00001
NM_030930.4(UNC93B1):c.741G>T (p.Leu247=)	rs768162221	0.00001
NM_030930.4(UNC93B1):c.759G>A (p.Thr253=)	rs1342020868	0.00001
NM_030930.4(UNC93B1):c.885G>T (p.Val295=)	rs758121352	0.00001
NM_030930.4(UNC93B1):c.96+7G>C	rs1168754436	0.00001
NM_030930.4(UNC93B1):c.1008T>A (p.Arg336=)
NM_030930.4(UNC93B1):c.1083C>T (p.Ile361=)
NM_030930.4(UNC93B1):c.1090-18C>T
NM_030930.4(UNC93B1):c.1090-4G>A
NM_030930.4(UNC93B1):c.1090-5C>T
NM_030930.4(UNC93B1):c.1092C>T (p.Gly364=)
NM_030930.4(UNC93B1):c.1134C>T (p.Leu378=)
NM_030930.4(UNC93B1):c.1155C>G (p.Gly385=)
NM_030930.4(UNC93B1):c.1173C>A (p.Leu391=)	rs1292334817
NM_030930.4(UNC93B1):c.1189C>T (p.Leu397=)
NM_030930.4(UNC93B1):c.1191G>C (p.Leu397=)	rs1565124268
NM_030930.4(UNC93B1):c.1206G>A (p.Pro402=)	rs112284414
NM_030930.4(UNC93B1):c.1209G>A (p.Val403=)
NM_030930.4(UNC93B1):c.1260T>C (p.Phe420=)
NM_030930.4(UNC93B1):c.1287G>A (p.Leu429=)	rs2134359180
NM_030930.4(UNC93B1):c.1302C>T (p.Ile434=)	rs1287097253
NM_030930.4(UNC93B1):c.1363+18_1363+19insTAT
NM_030930.4(UNC93B1):c.1363+19A>C	rs1380377788
NM_030930.4(UNC93B1):c.1363+19A>T
NM_030930.4(UNC93B1):c.1363+7A>G	rs2134359044
NM_030930.4(UNC93B1):c.1404C>T (p.Asp468=)
NM_030930.4(UNC93B1):c.1452C>A (p.Thr484=)	rs762916919
NM_030930.4(UNC93B1):c.1452C>T (p.Thr484=)	rs762916919
NM_030930.4(UNC93B1):c.1467G>A (p.Ser489=)	rs201959670
NM_030930.4(UNC93B1):c.1482+15G>A
NM_030930.4(UNC93B1):c.1483-12C>A
NM_030930.4(UNC93B1):c.1483-14C>T
NM_030930.4(UNC93B1):c.1483-16C>A
NM_030930.4(UNC93B1):c.1498C>T (p.Leu500=)	rs1235498910
NM_030930.4(UNC93B1):c.1518G>A (p.Ala506=)	rs3953720
NM_030930.4(UNC93B1):c.1518G>T (p.Ala506=)	rs3953720
NM_030930.4(UNC93B1):c.1563C>G (p.Gly521=)	rs1856847629
NM_030930.4(UNC93B1):c.1563C>T (p.Gly521=)
NM_030930.4(UNC93B1):c.1572G>T (p.Pro524=)
NM_030930.4(UNC93B1):c.1578G>A (p.Gln526=)
NM_030930.4(UNC93B1):c.1596C>G (p.Pro532=)
NM_030930.4(UNC93B1):c.1605G>A (p.Lys535=)
NM_030930.4(UNC93B1):c.1611C>T (p.Arg537=)
NM_030930.4(UNC93B1):c.1656G>C (p.Ala552=)
NM_030930.4(UNC93B1):c.1724_1725delinsAG (p.Pro575Gln)	rs1554984685
NM_030930.4(UNC93B1):c.1725C>T (p.Pro575=)	rs568350079
NM_030930.4(UNC93B1):c.21C>A (p.Leu7=)
NM_030930.4(UNC93B1):c.239-17C>G
NM_030930.4(UNC93B1):c.239-20G>T	rs1333286700
NM_030930.4(UNC93B1):c.27G>C (p.Pro9=)	rs1857094115
NM_030930.4(UNC93B1):c.33G>C (p.Ala11=)	rs1407855614
NM_030930.4(UNC93B1):c.392+8C>T
NM_030930.4(UNC93B1):c.393-11A>G
NM_030930.4(UNC93B1):c.393-13C>T
NM_030930.4(UNC93B1):c.393-14C>T
NM_030930.4(UNC93B1):c.405G>A (p.Thr135=)
NM_030930.4(UNC93B1):c.42G>C (p.Ala14=)
NM_030930.4(UNC93B1):c.474C>T (p.Tyr158=)	rs764551107
NM_030930.4(UNC93B1):c.480G>A (p.Thr160=)
NM_030930.4(UNC93B1):c.48G>T (p.Pro16=)
NM_030930.4(UNC93B1):c.492G>A (p.Ser164=)
NM_030930.4(UNC93B1):c.554+9G>A
NM_030930.4(UNC93B1):c.555-6G>T
NM_030930.4(UNC93B1):c.561G>A (p.Ala187=)
NM_030930.4(UNC93B1):c.561G>T (p.Ala187=)
NM_030930.4(UNC93B1):c.573T>C (p.His191=)	rs1316157143
NM_030930.4(UNC93B1):c.600T>C (p.Asp200=)
NM_030930.4(UNC93B1):c.627G>A (p.Pro209=)
NM_030930.4(UNC93B1):c.657C>T (p.Val219=)	rs1477540309
NM_030930.4(UNC93B1):c.687+12G>A
NM_030930.4(UNC93B1):c.688-14C>G
NM_030930.4(UNC93B1):c.69C>A (p.Leu23=)
NM_030930.4(UNC93B1):c.750G>C (p.Leu250=)
NM_030930.4(UNC93B1):c.771G>A (p.Val257=)	rs758434326
NM_030930.4(UNC93B1):c.777C>T (p.Ser259=)
NM_030930.4(UNC93B1):c.781+8C>T	rs2134362905
NM_030930.4(UNC93B1):c.782-14C>T	rs1310108344
NM_030930.4(UNC93B1):c.782-18C>T
NM_030930.4(UNC93B1):c.795C>T (p.His265=)	rs762508805
NM_030930.4(UNC93B1):c.807C>T (p.Ser269=)	rs777240820
NM_030930.4(UNC93B1):c.829C>A (p.Arg277=)	rs2134362220
NM_030930.4(UNC93B1):c.831G>A (p.Arg277=)	rs2134362209
NM_030930.4(UNC93B1):c.849A>C (p.Gly283=)	rs2134362169
NM_030930.4(UNC93B1):c.84G>C (p.Gly28=)
NM_030930.4(UNC93B1):c.852C>T (p.Asn284=)
NM_030930.4(UNC93B1):c.87C>G (p.Pro29=)	rs937751489
NM_030930.4(UNC93B1):c.906+10G>A
NM_030930.4(UNC93B1):c.906+9C>T
NM_030930.4(UNC93B1):c.936G>A (p.Arg312=)	rs2134360851
NM_030930.4(UNC93B1):c.96+15G>A

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