List of variants reported as likely benign for Brown-Vialetto-van Laere syndrome 1

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 133

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HGVS	dbSNP	gnomAD frequency
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)	rs76947760	0.01629
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=)	rs139965967	0.00068
NM_033409.4(SLC52A3):c.801G>A (p.Pro267=)	rs146474751	0.00026
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=)	rs139430185	0.00023
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=)	rs139137879	0.00017
NM_033409.4(SLC52A3):c.1288T>C (p.Leu430=)	rs149534355	0.00015
NM_033409.4(SLC52A3):c.711G>A (p.Ala237=)	rs183391382	0.00015
NM_033409.4(SLC52A3):c.597C>T (p.Leu199=)	rs142019192	0.00014
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=)	rs149076913	0.00013
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=)	rs373887707	0.00012
NM_033409.4(SLC52A3):c.567+16C>T	rs376004466	0.00011
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln)	rs199861879	0.00011
NM_033409.4(SLC52A3):c.567+15C>A	rs369950335	0.00009
NM_033409.4(SLC52A3):c.1197+18G>A	rs780649121	0.00008
NM_033409.4(SLC52A3):c.1198-6C>T	rs778730226	0.00007
NM_033409.4(SLC52A3):c.979C>T (p.Leu327=)	rs774366292	0.00005
NM_033409.4(SLC52A3):c.1197+14C>G	rs566920080	0.00004
NM_033409.4(SLC52A3):c.249C>T (p.Thr83=)	rs200606057	0.00004
NM_033409.4(SLC52A3):c.414C>A (p.Leu138=)	rs749661470	0.00004
NM_033409.4(SLC52A3):c.444C>T (p.Ser148=)	rs551722690	0.00004
NM_033409.4(SLC52A3):c.753C>T (p.Ser251=)	rs192438170	0.00004
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=)	rs534678154	0.00004
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=)	rs376546378	0.00004
NM_033409.4(SLC52A3):c.1014C>T (p.Ala338=)	rs767240021	0.00003
NM_033409.4(SLC52A3):c.1200G>A (p.Val400=)	rs772196630	0.00003
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=)	rs776667122	0.00002
NM_033409.4(SLC52A3):c.303C>T (p.Asp101=)	rs137861276	0.00002
NM_033409.4(SLC52A3):c.441C>A (p.Leu147=)	rs779220699	0.00002
NM_033409.4(SLC52A3):c.498C>T (p.Cys166=)	rs377618514	0.00002
NM_033409.4(SLC52A3):c.615C>T (p.Pro205=)	rs771572751	0.00002
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=)	rs532778217	0.00002
NM_033409.4(SLC52A3):c.1053C>T (p.Val351=)	rs766126275	0.00001
NM_033409.4(SLC52A3):c.105C>T (p.Pro35=)	rs376995195	0.00001
NM_033409.4(SLC52A3):c.1073+10C>T	rs767166849	0.00001
NM_033409.4(SLC52A3):c.1073+16G>A	rs372189215	0.00001
NM_033409.4(SLC52A3):c.1122G>A (p.Gly374=)	rs755616826	0.00001
NM_033409.4(SLC52A3):c.1143G>A (p.Ala381=)	rs756997756	0.00001
NM_033409.4(SLC52A3):c.1197+10C>T	rs897478857	0.00001
NM_033409.4(SLC52A3):c.1215T>C (p.Leu405=)	rs764407302	0.00001
NM_033409.4(SLC52A3):c.1320G>A (p.Ser440=)	rs138169890	0.00001
NM_033409.4(SLC52A3):c.1359G>A (p.Val453=)	rs536993223	0.00001
NM_033409.4(SLC52A3):c.195G>A (p.Arg65=)	rs745945947	0.00001
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=)	rs1455468261	0.00001
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met)	rs546240059	0.00001
NM_033409.4(SLC52A3):c.30C>T (p.Cys10=)	rs201545356	0.00001
NM_033409.4(SLC52A3):c.384G>A (p.Pro128=)	rs774162429	0.00001
NM_033409.4(SLC52A3):c.432T>C (p.Gly144=)	rs1195321579	0.00001
NM_033409.4(SLC52A3):c.483C>T (p.Ser161=)	rs113754514	0.00001
NM_033409.4(SLC52A3):c.48C>G (p.Ser16=)	rs142206705	0.00001
NM_033409.4(SLC52A3):c.510T>C (p.Thr170=)	rs772092979	0.00001
NM_033409.4(SLC52A3):c.54G>A (p.Val18=)	rs1418731782	0.00001
NM_033409.4(SLC52A3):c.568-17T>C	rs1986590057	0.00001
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=)	rs1418663109	0.00001
NM_033409.4(SLC52A3):c.795C>A (p.Ile265=)	rs1229887026	0.00001
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=)	rs756359704	0.00001
NM_033409.4(SLC52A3):c.954G>A (p.Leu318=)	rs147508914	0.00001
NM_033409.4(SLC52A3):c.1017C>T (p.Thr339=)
NM_033409.4(SLC52A3):c.1038T>A (p.Pro346=)
NM_033409.4(SLC52A3):c.1038T>G (p.Pro346=)
NM_033409.4(SLC52A3):c.1047G>C (p.Ser349=)	rs147369439
NM_033409.4(SLC52A3):c.1073+11A>C
NM_033409.4(SLC52A3):c.1074-13T>G
NM_033409.4(SLC52A3):c.1074-15C>T
NM_033409.4(SLC52A3):c.1074-16C>G
NM_033409.4(SLC52A3):c.1074-16C>T
NM_033409.4(SLC52A3):c.1074-4C>A
NM_033409.4(SLC52A3):c.1074-8T>C
NM_033409.4(SLC52A3):c.1083G>A (p.Leu361=)	rs367957442
NM_033409.4(SLC52A3):c.1101C>G (p.Ser367=)
NM_033409.4(SLC52A3):c.1104G>C (p.Val368=)
NM_033409.4(SLC52A3):c.1197+13C>T
NM_033409.4(SLC52A3):c.1197+15G>T	rs749673791
NM_033409.4(SLC52A3):c.1198-10G>C
NM_033409.4(SLC52A3):c.1198-5C>G
NM_033409.4(SLC52A3):c.1198-8C>A	rs1433006334
NM_033409.4(SLC52A3):c.1206G>C (p.Ser402=)
NM_033409.4(SLC52A3):c.1206G>T (p.Ser402=)
NM_033409.4(SLC52A3):c.1212G>A (p.Val404=)	rs1212542259
NM_033409.4(SLC52A3):c.1221C>T (p.Ser407=)	rs575834308
NM_033409.4(SLC52A3):c.1227C>T (p.Cys409=)
NM_033409.4(SLC52A3):c.1254C>T (p.Gly418=)	rs1986458407
NM_033409.4(SLC52A3):c.1257G>T (p.Val419=)
NM_033409.4(SLC52A3):c.1260C>A (p.Val420=)	rs1412121788
NM_033409.4(SLC52A3):c.1266C>G (p.Arg422=)	rs948343485
NM_033409.4(SLC52A3):c.1305G>A (p.Ala435=)
NM_033409.4(SLC52A3):c.1329A>G (p.Gly443=)	rs1599955667
NM_033409.4(SLC52A3):c.1353C>G (p.Val451=)	rs2122505397
NM_033409.4(SLC52A3):c.1368C>T (p.Leu456=)	rs1878825944
NM_033409.4(SLC52A3):c.1374G>A (p.Ser458=)
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=)	rs758484328
NM_033409.4(SLC52A3):c.1380G>C (p.Ala460=)
NM_033409.4(SLC52A3):c.1407C>G (p.Ala469=)	rs1986444095
NM_033409.4(SLC52A3):c.162G>A (p.Gly54=)
NM_033409.4(SLC52A3):c.174C>G (p.Val58=)	rs2122526324
NM_033409.4(SLC52A3):c.183C>T (p.Leu61=)	rs1372014420
NM_033409.4(SLC52A3):c.228C>T (p.Phe76=)	rs1599959406
NM_033409.4(SLC52A3):c.237G>T (p.Leu79=)
NM_033409.4(SLC52A3):c.282T>C (p.Asn94=)
NM_033409.4(SLC52A3):c.291C>G (p.Ser97=)
NM_033409.4(SLC52A3):c.318C>T (p.Ile106=)
NM_033409.4(SLC52A3):c.36C>T (p.Phe12=)
NM_033409.4(SLC52A3):c.378C>T (p.Phe126=)	rs1599959231
NM_033409.4(SLC52A3):c.411C>T (p.Tyr137=)
NM_033409.4(SLC52A3):c.414C>G (p.Leu138=)	rs749661470
NM_033409.4(SLC52A3):c.45C>A (p.Gly15=)
NM_033409.4(SLC52A3):c.468T>C (p.Ala156=)	rs1986639907
NM_033409.4(SLC52A3):c.474C>T (p.Ala158=)
NM_033409.4(SLC52A3):c.525C>T (p.Ser175=)	rs143641819
NM_033409.4(SLC52A3):c.546G>T (p.Thr182=)	rs139965967
NM_033409.4(SLC52A3):c.558C>T (p.Asp186=)	rs1986633498
NM_033409.4(SLC52A3):c.561C>T (p.Ile187=)
NM_033409.4(SLC52A3):c.564A>C (p.Ala188=)
NM_033409.4(SLC52A3):c.567+17G>A
NM_033409.4(SLC52A3):c.568-11G>A
NM_033409.4(SLC52A3):c.568-4G>T	rs2122519249
NM_033409.4(SLC52A3):c.568-6T>C
NM_033409.4(SLC52A3):c.591C>T (p.Ser197=)
NM_033409.4(SLC52A3):c.625C>T (p.Leu209=)
NM_033409.4(SLC52A3):c.639C>T (p.Tyr213=)	rs778363575
NM_033409.4(SLC52A3):c.661C>T (p.Leu221=)
NM_033409.4(SLC52A3):c.705C>G (p.Leu235=)
NM_033409.4(SLC52A3):c.726G>A (p.Gln242=)
NM_033409.4(SLC52A3):c.765C>G (p.Leu255=)	rs3746805
NM_033409.4(SLC52A3):c.771T>C (p.Asn257=)	rs1986575711
NM_033409.4(SLC52A3):c.774C>T (p.Asp258=)	rs766515749
NM_033409.4(SLC52A3):c.78G>A (p.Glu26=)
NM_033409.4(SLC52A3):c.798G>A (p.Arg266=)
NM_033409.4(SLC52A3):c.802C>A (p.Arg268=)	rs145498634
NM_033409.4(SLC52A3):c.816C>T (p.Asp272=)
NM_033409.4(SLC52A3):c.858G>A (p.Gly286=)
NM_033409.4(SLC52A3):c.858G>T (p.Gly286=)	rs752020540
NM_033409.4(SLC52A3):c.891G>C (p.Pro297=)	rs373350870
NM_033409.4(SLC52A3):c.909C>T (p.Ile303=)

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