ClinVar Miner

List of variants in gene BEST1 reported as likely pathogenic for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.1087A>C (p.Thr363Pro) rs147228028 0.00045
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.1552G>T (p.Glu518Ter) rs370835731 0.00005
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.355G>C (p.Glu119Gln) rs1805142 0.00003
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.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_004183.4(BEST1):c.102C>T (p.Gly34=) rs771898125 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.1740-2A>G rs1190983296 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.70T>C (p.Trp24Arg) rs1334381137 0.00002
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.275G>T (p.Arg92Leu) rs281865225 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.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser) rs281865236 0.00001
NM_004183.4(BEST1):c.449G>C (p.Arg150Pro) rs1249897117 0.00001
NM_004183.4(BEST1):c.5C>G (p.Thr2Ser) rs1209208472 0.00001
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly) rs748685592 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218 0.00001
NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del
NM_004183.4(BEST1):c.-37+1G>T rs1555096248
NM_004183.4(BEST1):c.1013G>A (p.Trp338Ter)
NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter) rs1591303900
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.106T>A (p.Phe36Ile)
NM_004183.4(BEST1):c.1100+1_1100+10del rs1941898895
NM_004183.4(BEST1):c.1403C>A (p.Pro468Gln)
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter) rs1942208203
NM_004183.4(BEST1):c.1622del (p.Leu541fs) rs1942209287
NM_004183.4(BEST1):c.169G>T (p.Glu57Ter) rs1382219910
NM_004183.4(BEST1):c.16A>G (p.Thr6Ala) rs28940275
NM_004183.4(BEST1):c.172C>G (p.Gln58Glu) rs1591280478
NM_004183.4(BEST1):c.173A>T (p.Gln58Leu) rs281865529
NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.17C>T (p.Thr6Ile)
NM_004183.4(BEST1):c.200T>C (p.Leu67Pro)
NM_004183.4(BEST1):c.203A>G (p.Tyr68Cys)
NM_004183.4(BEST1):c.218T>A (p.Ile73Asn) rs1591280714
NM_004183.4(BEST1):c.218T>C (p.Ile73Thr)
NM_004183.4(BEST1):c.223C>T (p.Leu75Phe)
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.241G>A (p.Val81Met) rs1555098634
NM_004183.4(BEST1):c.248-2A>G rs1941247515
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.25G>C (p.Val9Leu) rs28940276
NM_004183.4(BEST1):c.26T>G (p.Val9Gly) rs281865205
NM_004183.4(BEST1):c.279G>T (p.Trp93Cys)
NM_004183.4(BEST1):c.283A>T (p.Asn95Tyr) rs2134430116
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg) rs1225032182
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004183.4(BEST1):c.293A>G (p.Glu98Gly)
NM_004183.4(BEST1):c.295A>C (p.Asn99His) rs1591283811
NM_004183.4(BEST1):c.299T>G (p.Leu100Arg) rs281865228
NM_004183.4(BEST1):c.313C>G (p.Arg105Gly) rs281865273
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004183.4(BEST1):c.352G>C (p.Asp118His)
NM_004183.4(BEST1):c.364C>T (p.Arg122Trp)
NM_004183.4(BEST1):c.365G>C (p.Arg122Pro) rs767103810
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) rs1591284563
NM_004183.4(BEST1):c.427G>C (p.Val143Leu) rs1378679988
NM_004183.4(BEST1):c.428T>C (p.Val143Ala)
NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)
NM_004183.4(BEST1):c.44G>A (p.Gly15Asp) rs766379510
NM_004183.4(BEST1):c.454C>T (p.Pro152Ser)
NM_004183.4(BEST1):c.488T>G (p.Met163Arg)
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del) rs775979290
NM_004183.4(BEST1):c.535A>G (p.Asn179Asp) rs1555099968
NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)
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.676G>A (p.Ala226Thr)
NM_004183.4(BEST1):c.680A>T (p.Tyr227Phe)
NM_004183.4(BEST1):c.682G>C (p.Asp228His) rs267606676
NM_004183.4(BEST1):c.684C>A (p.Asp228Glu)
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.695T>A (p.Ile232Asn)
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) rs1565392261
NM_004183.4(BEST1):c.700C>G (p.Leu234Val) rs2134440476
NM_004183.4(BEST1):c.704T>G (p.Val235Gly)
NM_004183.4(BEST1):c.709A>T (p.Thr237Ser) rs2134440586
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn) rs281865247
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp) rs281865214
NM_004183.4(BEST1):c.80G>C (p.Ser27Thr)
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys) rs1565382549
NM_004183.4(BEST1):c.874G>C (p.Glu292Gln) rs886039311
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys) rs1554963058
NM_004183.4(BEST1):c.893T>C (p.Phe298Ser) rs281865257
NM_004183.4(BEST1):c.901G>C (p.Asp301His)
NM_004183.4(BEST1):c.907G>T (p.Asp303Tyr) rs1941816094
NM_004183.4(BEST1):c.915T>G (p.Phe305Leu) rs1565036465
NM_004183.4(BEST1):c.91C>A (p.Leu31Met)
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.939G>T (p.Arg313Ser)
NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) rs1554963305
NM_004183.4(BEST1):c.968A>T (p.Asp323Val) rs752756768
NM_004183.4(BEST1):c.98A>G (p.Tyr33Cys)

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