ClinVar Miner

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

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) rs765333778 0.00002
NM_004183.4(BEST1):c.70T>C (p.Trp24Arg) rs1334381137 0.00002
NM_004183.4(BEST1):c.274C>A (p.Arg92Ser) rs281865224 0.00001
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu) rs980876322 0.00001
NM_004183.4(BEST1):c.313C>A (p.Arg105Ser) rs281865273 0.00001
NM_004183.4(BEST1):c.397A>C (p.Asn133His) rs755851136 0.00001
NM_004183.4(BEST1):c.605G>A (p.Arg202Gln) rs753437612 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218 0.00001
NM_004183.4(BEST1):c.97T>C (p.Tyr33His) rs994248373 0.00001
NC_000011.9:g.(?_61725598)_(61730385_?)del
NM_004183.4(BEST1):c.-37+5G>A
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.1101-1G>C
NM_004183.4(BEST1):c.140G>T (p.Arg47Leu)
NM_004183.4(BEST1):c.1412C>T (p.Pro471Leu) rs2134470006
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer) rs1389863115
NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.226A>G (p.Ile76Val)
NM_004183.4(BEST1):c.226A>T (p.Ile76Phe) rs1941153466
NM_004183.4(BEST1):c.238T>A (p.Phe80Ile) rs1064793051
NM_004183.4(BEST1):c.238T>G (p.Phe80Val)
NM_004183.4(BEST1):c.244C>G (p.Leu82Val) rs281865530
NM_004183.4(BEST1):c.247+2del rs1565387045
NM_004183.4(BEST1):c.248-1G>A rs2134429776
NM_004183.4(BEST1):c.257T>A (p.Val86Glu) rs2134429825
NM_004183.4(BEST1):c.257T>C (p.Val86Ala) rs2134429825
NM_004183.4(BEST1):c.266_282del (p.Val89fs)
NM_004183.4(BEST1):c.277T>C (p.Trp93Arg) rs1941252350
NM_004183.4(BEST1):c.278G>T (p.Trp93Leu) rs2134430043
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.299T>G (p.Leu100Arg) rs281865228
NM_004183.4(BEST1):c.302C>G (p.Pro101Arg) rs374517178
NM_004183.4(BEST1):c.32A>G (p.Asn11Ser) rs281865208
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) rs886041141
NM_004183.4(BEST1):c.388C>T (p.Arg130Cys)
NM_004183.4(BEST1):c.38G>C (p.Arg13Pro) rs281865209
NM_004183.4(BEST1):c.401T>C (p.Leu134Pro)
NM_004183.4(BEST1):c.403G>A (p.Gly135Ser) rs281865234
NM_004183.4(BEST1):c.428T>C (p.Val143Ala)
NM_004183.4(BEST1):c.454C>T (p.Pro152Ser)
NM_004183.4(BEST1):c.46T>C (p.Ser16Pro)
NM_004183.4(BEST1):c.49T>A (p.Phe17Ile) rs1940696088
NM_004183.4(BEST1):c.49T>C (p.Phe17Leu)
NM_004183.4(BEST1):c.50T>A (p.Phe17Tyr) rs281865211
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
NM_004183.4(BEST1):c.572T>C (p.Leu191Pro) rs1484152128
NM_004183.4(BEST1):c.59T>C (p.Leu20Pro)
NM_004183.4(BEST1):c.61C>G (p.Leu21Val) rs281865212
NM_004183.4(BEST1):c.62T>A (p.Leu21Gln) rs758726044
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.653G>T (p.Arg218Leu)
NM_004183.4(BEST1):c.665G>T (p.Gly222Val) rs281865241
NM_004183.4(BEST1):c.671T>A (p.Leu224Gln) rs281865243
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys) rs267606677
NM_004183.4(BEST1):c.682G>C (p.Asp228His) rs267606676
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.693T>A (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.700C>G (p.Leu234Val) rs2134440476
NM_004183.4(BEST1):c.701T>A (p.Leu234Gln) rs1941501578
NM_004183.4(BEST1):c.710C>A (p.Thr237Lys)
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg) rs1941503926
NM_004183.4(BEST1):c.715G>A (p.Val239Met) rs121918290
NM_004183.4(BEST1):c.725T>C (p.Val242Ala)
NM_004183.4(BEST1):c.764G>T (p.Arg255Leu) rs377370089
NM_004183.4(BEST1):c.76G>A (p.Gly26Ser) rs2134409637
NM_004183.4(BEST1):c.77G>A (p.Gly26Asp) rs748684128
NM_004183.4(BEST1):c.79A>G (p.Ser27Gly) rs2134409684
NM_004183.4(BEST1):c.80G>A (p.Ser27Asn) rs1301396112
NM_004183.4(BEST1):c.821C>A (p.Pro274His)
NM_004183.4(BEST1):c.850T>C (p.Tyr284His)
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004183.4(BEST1):c.867+97G>A
NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys) rs1565382549
NM_004183.4(BEST1):c.874G>A (p.Glu292Lys) rs886039311
NM_004183.4(BEST1):c.883A>G (p.Ile295Val) rs777320382
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys) rs1554963058
NM_004183.4(BEST1):c.88A>G (p.Lys30Glu)
NM_004183.4(BEST1):c.896G>T (p.Gly299Val)
NM_004183.4(BEST1):c.901GAT[3] (p.Asp304del) rs281865260
NM_004183.4(BEST1):c.905A>G (p.Asp302Gly) rs281865263
NM_004183.4(BEST1):c.905A>T (p.Asp302Val) rs281865263
NM_004183.4(BEST1):c.906T>A (p.Asp302Glu) rs2134453407
NM_004183.4(BEST1):c.912T>G (p.Asp304Glu) rs1941817289
NM_004183.4(BEST1):c.919A>G (p.Thr307Ala) rs281865268
NM_004183.4(BEST1):c.92T>G (p.Leu31Arg)
NM_004183.4(BEST1):c.948+1_948+2delinsTA rs2134453733
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro) rs1591266591
NM_004183.4(BEST1):c.9C>G (p.Ile3Met)

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