ClinVar Miner

List of variants in gene BEST1 reported as pathogenic for not provided

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Gene type:
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Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg) rs62639270 0.00006
NM_004183.4(BEST1):c.974T>C (p.Met325Thr) rs368387447 0.00006
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter) rs370835731 0.00005
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) rs121918286 0.00004
NM_004183.4(BEST1):c.830C>T (p.Thr277Met) rs775791299 0.00004
NM_004183.4(BEST1):c.936C>A (p.Asp312Glu) rs748351421 0.00004
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser) rs750102662 0.00003
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_004183.4(BEST1):c.102C>T (p.Gly34=) rs771898125 0.00002
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) rs765333778 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004183.4(BEST1):c.1550C>G (p.Ser517Ter) rs762398929 0.00002
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu) rs374517178 0.00002
NM_004183.4(BEST1):c.604C>T (p.Arg202Trp) rs765998048 0.00002
NM_004183.4(BEST1):c.636+1G>A rs62637337 0.00002
NM_004183.4(BEST1):c.1066C>T (p.Arg356Ter) rs1295669283 0.00001
NM_004183.4(BEST1):c.1175del (p.Arg392fs) rs1490119932 0.00001
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288 0.00001
NM_004183.4(BEST1):c.1444del (p.Glu482fs) rs759410076 0.00001
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu) rs980876322 0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209 0.00001
NM_004183.4(BEST1):c.399C>G (p.Asn133Lys) rs281865233 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.404G>A (p.Gly135Asp) rs1159966472 0.00001
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser) rs281865236 0.00001
NM_004183.4(BEST1):c.454C>G (p.Pro152Ala) rs1417478879 0.00001
NM_004183.4(BEST1):c.475C>T (p.Gln159Ter) rs1174029281 0.00001
NM_004183.4(BEST1):c.5C>G (p.Thr2Ser) rs1209208472 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_004183.4(BEST1):c.72G>A (p.Trp24Ter) rs281865213 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_004183.4(BEST1):c.860G>A (p.Trp287Ter) rs753334817 0.00001
NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter) rs121918285 0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218 0.00001
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn) rs281865277 0.00001
NC_000011.9:g.(?_61717900)_(61719450_?)del
NC_000011.9:g.(?_61722559)_(61723443_?)del
NC_000011.9:g.(?_61722559)_(61727535_?)del
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.1100+1G>C rs1434513582
NM_004183.4(BEST1):c.1120dup (p.Glu374fs) rs766357080
NM_004183.4(BEST1):c.119dup (p.Leu41fs) rs2134410058
NM_004183.4(BEST1):c.11C>T (p.Thr4Ile) rs368383940
NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter) rs1942169028
NM_004183.4(BEST1):c.1319_1388del (p.Glu440fs) rs2134469325
NM_004183.4(BEST1):c.1403C>T (p.Pro468Leu) rs747043918
NM_004183.4(BEST1):c.1470_1471del (p.His490fs) rs281865528
NM_004183.4(BEST1):c.1501_1508del (p.Ser501fs)
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.1533_1534del (p.Ser512fs) rs1244671706
NM_004183.4(BEST1):c.16A>C (p.Thr6Pro) rs28940275
NM_004183.4(BEST1):c.16A>G (p.Thr6Ala) rs28940275
NM_004183.4(BEST1):c.172_173dup (p.Gln58fs) rs672601356
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.182del (p.Met61fs) rs1941145120
NM_004183.4(BEST1):c.190A>T (p.Lys64Ter) rs2134425489
NM_004183.4(BEST1):c.1A>G (p.Met1Val)
NM_004183.4(BEST1):c.218T>A (p.Ile73Asn) rs1591280714
NM_004183.4(BEST1):c.224T>C (p.Leu75Pro) rs2134425822
NM_004183.4(BEST1):c.227T>A (p.Ile76Asn)
NM_004183.4(BEST1):c.227T>C (p.Ile76Thr)
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.240C>G (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.241G>A (p.Val81Met) rs1555098634
NM_004183.4(BEST1):c.241G>C (p.Val81Leu) rs1555098634
NM_004183.4(BEST1):c.244C>G (p.Leu82Val) rs281865530
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.256G>A (p.Val86Met) rs121918289
NM_004183.4(BEST1):c.25G>C (p.Val9Leu) rs28940276
NM_004183.4(BEST1):c.272C>T (p.Thr91Ile) rs281865223
NM_004183.4(BEST1):c.274C>T (p.Arg92Cys) rs281865224
NM_004183.4(BEST1):c.275G>A (p.Arg92His) rs281865225
NM_004183.4(BEST1):c.279G>C (p.Trp93Cys) rs28940273
NM_004183.4(BEST1):c.279G>T (p.Trp93Cys)
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg) rs1225032182
NM_004183.4(BEST1):c.287A>T (p.Gln96Leu)
NM_004183.4(BEST1):c.288G>C (p.Gln96His) rs281865226
NM_004183.4(BEST1):c.28G>A (p.Ala10Thr) rs281865206
NM_004183.4(BEST1):c.292G>A (p.Glu98Lys) rs2134430191
NM_004183.4(BEST1):c.294G>C (p.Glu98Asp) rs1591283793
NM_004183.4(BEST1):c.295A>G (p.Asn99Asp)
NM_004183.4(BEST1):c.295A>T (p.Asn99Tyr)
NM_004183.4(BEST1):c.297C>A (p.Asn99Lys) rs281865227
NM_004183.4(BEST1):c.29C>T (p.Ala10Val) rs281865207
NM_004183.4(BEST1):c.301C>A (p.Pro101Thr) rs281865229
NM_004183.4(BEST1):c.310G>C (p.Asp104His) rs281865231
NM_004183.4(BEST1):c.334_340del (p.Gly112fs) rs1591284015
NM_004183.4(BEST1):c.396del (p.Asn133fs)
NM_004183.4(BEST1):c.427G>T (p.Val143Phe) rs1378679988
NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys) rs1800995
NM_004183.4(BEST1):c.44G>A (p.Gly15Asp) rs766379510
NM_004183.4(BEST1):c.47C>A (p.Ser16Tyr) rs281865210
NM_004183.4(BEST1):c.47C>T (p.Ser16Phe) rs281865210
NM_004183.4(BEST1):c.508C>T (p.Gln170Ter)
NM_004183.4(BEST1):c.524del (p.Ser175fs)
NM_004183.4(BEST1):c.575C>A (p.Ser192Ter)
NM_004183.4(BEST1):c.579_580insCATT (p.Lys194delinsHisTer) rs2134437355
NM_004183.4(BEST1):c.614T>C (p.Ile205Thr) rs267606680
NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)
NM_004183.4(BEST1):c.636+1G>T
NM_004183.4(BEST1):c.652C>G (p.Arg218Gly) rs281865238
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.663T>G (p.Cys221Trp) rs281865240
NM_004183.4(BEST1):c.665G>T (p.Gly222Val) rs281865241
NM_004183.4(BEST1):c.671T>C (p.Leu224Pro) rs281865243
NM_004183.4(BEST1):c.671T>G (p.Leu224Arg) rs281865243
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) rs28941469
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys) rs267606677
NM_004183.4(BEST1):c.689T>C (p.Ile230Thr)
NM_004183.4(BEST1):c.701T>G (p.Leu234Arg) rs1941501578
NM_004183.4(BEST1):c.703G>T (p.Val235Leu) rs281865245
NM_004183.4(BEST1):c.709A>T (p.Thr237Ser) rs2134440586
NM_004183.4(BEST1):c.712del (p.Gln238fs) rs1555100476
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg) rs1941503926
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn) rs281865247
NM_004183.4(BEST1):c.724G>A (p.Val242Met)
NM_004183.4(BEST1):c.725_726del (p.Val242fs) rs1941602345
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.72G>T (p.Trp24Cys) rs281865213
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp) rs281865214
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) rs372989281
NM_004183.4(BEST1):c.777_778insAA (p.Pro260fs) rs1591295182
NM_004183.4(BEST1):c.779del (p.Pro260fs) rs778645644
NM_004183.4(BEST1):c.842_843delinsAG (p.Phe281Ter)
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004183.4(BEST1):c.851_852del (p.Tyr284fs)
NM_004183.4(BEST1):c.85T>C (p.Tyr29His) rs281865217
NM_004183.4(BEST1):c.868-1G>A rs2134453079
NM_004183.4(BEST1):c.86_89dup (p.Leu31fs)
NM_004183.4(BEST1):c.874G>A (p.Glu292Lys) rs886039311
NM_004183.4(BEST1):c.877C>A (p.Gln293Lys) rs281865250
NM_004183.4(BEST1):c.879G>C (p.Gln293His) rs2134453127
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.883A>C (p.Ile295Leu) rs777320382
NM_004183.4(BEST1):c.884T>C (p.Ile295Thr) rs281865253
NM_004183.4(BEST1):c.886A>C (p.Asn296His) rs281865254
NM_004183.4(BEST1):c.886A>G (p.Asn296Asp)
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) rs281865255
NM_004183.4(BEST1):c.889C>G (p.Pro297Ala) rs1805143
NM_004183.4(BEST1):c.890C>A (p.Pro297His) rs2134453263
NM_004183.4(BEST1):c.893T>C (p.Phe298Ser) rs281865257
NM_004183.4(BEST1):c.895G>A (p.Gly299Arg)
NM_004183.4(BEST1):c.896G>A (p.Gly299Glu) rs28941468
NM_004183.4(BEST1):c.898G>A (p.Glu300Lys) rs281865258
NM_004183.4(BEST1):c.900G>C (p.Glu300Asp) rs1805144
NM_004183.4(BEST1):c.901G>A (p.Asp301Asn) rs281865259
NM_004183.4(BEST1):c.902A>G (p.Asp301Gly) rs2134453358
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu) rs281865261
NM_004183.4(BEST1):c.904G>C (p.Asp302His) rs281865262
NM_004183.4(BEST1):c.905A>C (p.Asp302Ala) rs281865263
NM_004183.4(BEST1):c.909T>A (p.Asp303Glu) rs281865264
NM_004183.4(BEST1):c.914T>C (p.Phe305Ser) rs281865265
NM_004183.4(BEST1):c.916G>C (p.Glu306Gln) rs2134453498
NM_004183.4(BEST1):c.917A>G (p.Glu306Gly) rs281865266
NM_004183.4(BEST1):c.918G>C (p.Glu306Asp) rs281865267
NM_004183.4(BEST1):c.918G>T (p.Glu306Asp)
NM_004183.4(BEST1):c.920C>A (p.Thr307Asn)
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile) rs281865269
NM_004183.4(BEST1):c.925T>C (p.Trp309Arg)
NM_004183.4(BEST1):c.929T>C (p.Ile310Thr) rs281865271
NM_004183.4(BEST1):c.970G>T (p.Glu324Ter)
NM_004183.4(BEST1):c.994del (p.Met332fs) rs1941880096

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