ClinVar Miner

List of variants in gene BEST1 reported by GeneDx

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Gene type:
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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.1740-42G>T rs195155 0.99519
NM_004183.4(BEST1):c.481+133A>G rs195164 0.88125
NM_004183.4(BEST1):c.247+165T>A rs195165 0.87997
NM_004183.4(BEST1):c.867+327T>G rs195160 0.86046
NM_004183.4(BEST1):c.482-313C>T rs195163 0.83853
NM_004183.4(BEST1):c.636+44C>T rs195162 0.83711
NM_004183.4(BEST1):c.714+238T>C rs2955684 0.83655
NM_004183.4(BEST1):c.714+239G>A rs2955683 0.83635
NM_004183.4(BEST1):c.1100+276G>A rs195157 0.79340
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.3(BEST1):c.-221T>C rs972353 0.48222
NM_004183.4(BEST1):c.-37+137G>A rs2736597 0.48202
NM_004183.4(BEST1):c.636+113T>G rs195161 0.44141
NM_004183.4(BEST1):c.481+280A>T rs909268 0.37605
NM_004183.4(BEST1):c.482-24C>T rs760306 0.37512
NM_004183.4(BEST1):c.1739+188T>C rs17185413 0.16159
NM_004183.3(BEST1):c.-329C>T rs972354 0.14911
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.-36-217G>A rs2736596 0.05121
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_004183.4(BEST1):c.714+69_714+70insCACCTA rs1312136371 0.03272
NM_004183.4(BEST1):c.1739+49C>A rs115379107 0.02572
NM_004183.4(BEST1):c.-36-173T>C rs11825719 0.02483
NM_004183.4(BEST1):c.1739+62G>T rs115979721 0.02104
NM_004183.4(BEST1):c.1100+232C>A rs111677305 0.02090
NM_004183.4(BEST1):c.481+211dup rs369434976 0.01983
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_004183.4(BEST1):c.714+138T>C rs141507235 0.01835
NM_004183.4(BEST1):c.868-253G>A rs78012644 0.01822
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_004183.4(BEST1):c.636+181C>A rs75769763 0.01703
NM_004183.4(BEST1):c.-37+274G>A rs77651946 0.01674
NM_004183.4(BEST1):c.248-231C>T rs114944671 0.01637
NM_004183.4(BEST1):c.153-75C>T rs112665957 0.01288
NM_004183.4(BEST1):c.153-135G>C rs77543508 0.01280
NM_004183.4(BEST1):c.-37+329T>C rs73493205 0.01195
NM_004183.4(BEST1):c.949-101A>G rs538729930 0.00230
NM_004183.4(BEST1):c.1739+189C>T rs137853901 0.00116
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr) rs145209035 0.00086
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004183.4(BEST1):c.1271G>C (p.Gly424Ala) rs201210799 0.00007
NM_004183.4(BEST1):c.1133A>G (p.Asn378Ser) rs199998058 0.00003
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.102C>T (p.Gly34=) rs771898125 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.286C>G (p.Gln96Glu) rs980876322 0.00001
NM_004183.4(BEST1):c.454C>G (p.Pro152Ala) rs1417478879 0.00001
NM_004183.4(BEST1):c.51C>A (p.Phe17Leu) rs1940696725 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.860G>A (p.Trp287Ter) rs753334817 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
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.1067G>A (p.Arg356Gln) rs751707411
NM_004183.4(BEST1):c.1075_1077delinsATA (p.Phe359Ile) rs2134456362
NM_004183.4(BEST1):c.1100+83T>C rs139909214
NM_004183.4(BEST1):c.1120dup (p.Glu374fs) rs766357080
NM_004183.4(BEST1):c.113T>G (p.Ile38Ser) rs1064796849
NM_004183.4(BEST1):c.1182A>G (p.Leu394=) rs1416177284
NM_004183.4(BEST1):c.1344G>A (p.Lys448=) rs750853071
NM_004183.4(BEST1):c.1409C>T (p.Thr470Met)
NM_004183.4(BEST1):c.1470_1471del (p.His490fs) rs281865528
NM_004183.4(BEST1):c.1513G>C (p.Val505Leu)
NM_004183.4(BEST1):c.153-14A>C rs775520760
NM_004183.4(BEST1):c.153-22CCACCC[2] rs398124110
NM_004183.4(BEST1):c.1722T>G (p.Tyr574Ter) rs755188083
NM_004183.4(BEST1):c.1740-250_1740-249dup rs56215258
NM_004183.4(BEST1):c.1740-98del rs34046408
NM_004183.4(BEST1):c.1740-98dup rs34046408
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.238T>A (p.Phe80Ile) rs1064793051
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.316C>T (p.Leu106Phe) rs1818911095
NM_004183.4(BEST1):c.334_340del (p.Gly112fs) rs1591284015
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
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.481+210C>T rs114450910
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
NM_004183.4(BEST1):c.611C>G (p.Pro204Arg)
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.671T>A (p.Leu224Gln) 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.714+68_714+70del rs1435285978
NM_004183.4(BEST1):c.714+71T>A rs185387478
NM_004183.4(BEST1):c.715-120A>G rs2668898
NM_004183.4(BEST1):c.715-12_715-11insTCCTCCTCC rs2134444482
NM_004183.4(BEST1):c.715-173CAAA[10] rs71046754
NM_004183.4(BEST1):c.715-173CAAA[8] rs71046754
NM_004183.4(BEST1):c.715-173CAAA[9] rs71046754
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004183.4(BEST1):c.715-18_715-17insTCCTCCTCC rs2134444286
NM_004183.4(BEST1):c.715G>A (p.Val239Met) rs121918290
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_004183.4(BEST1):c.777_778insAA (p.Pro260fs) rs1591295182
NM_004183.4(BEST1):c.779del (p.Pro260fs) rs778645644
NM_004183.4(BEST1):c.804G>C (p.Glu268Asp) rs778715415
NM_004183.4(BEST1):c.814G>A (p.Val272Ile)
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004183.4(BEST1):c.868-99G>T rs195158
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.900G>C (p.Glu300Asp) rs1805144
NM_004183.4(BEST1):c.901GAT[3] (p.Asp304del) rs281865260
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu) rs281865261
NM_004183.4(BEST1):c.919A>G (p.Thr307Ala) rs281865268
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile) rs281865269
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro) rs1591266591

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