ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
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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