ClinVar Miner

List of variants in gene BEST1 reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr) rs145209035 0.00086
NM_004183.4(BEST1):c.231C>T (p.Pro77=) rs142053865 0.00016
NM_004183.4(BEST1):c.1215G>A (p.Arg405=) rs751740475 0.00012
NM_004183.4(BEST1):c.992G>A (p.Arg331Gln) rs201386186 0.00012
NM_004183.4(BEST1):c.1306G>A (p.Val436Ile) rs145439032 0.00010
NM_004183.4(BEST1):c.1305C>T (p.Asn435=) rs532728444 0.00009
NM_004183.4(BEST1):c.1271G>C (p.Gly424Ala) rs201210799 0.00007
NM_004183.4(BEST1):c.1101-20C>A rs527614503 0.00006
NM_004183.4(BEST1):c.248-18C>G rs1269073504 0.00005
NM_004183.4(BEST1):c.1158C>T (p.His386=) rs780666113 0.00004
NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr) rs375618932 0.00004
NM_004183.4(BEST1):c.247+18G>C rs369486390 0.00004
NM_004183.4(BEST1):c.248-6G>A rs917945147 0.00004
NM_004183.4(BEST1):c.714+11G>C rs376817800 0.00004
NM_004183.4(BEST1):c.1133A>G (p.Asn378Ser) rs199998058 0.00003
NM_004183.4(BEST1):c.33T>C (p.Asn11=) rs281865531 0.00003
NM_004183.4(BEST1):c.537C>T (p.Asn179=) rs758504759 0.00003
NM_004183.4(BEST1):c.729G>A (p.Ala243=) rs752998391 0.00003
NM_004183.4(BEST1):c.933C>T (p.Val311=) rs281865278 0.00003
NM_004183.4(BEST1):c.1041C>T (p.Tyr347=) rs759411214 0.00002
NM_004183.4(BEST1):c.1065T>A (p.Arg355=) rs764237648 0.00002
NM_004183.4(BEST1):c.1230C>A (p.Thr410=) rs908879383 0.00002
NM_004183.4(BEST1):c.1455G>A (p.Ala485=) rs537948782 0.00002
NM_004183.4(BEST1):c.1554G>A (p.Glu518=) rs1338312225 0.00002
NM_004183.4(BEST1):c.244C>T (p.Leu82=) rs281865530 0.00002
NM_004183.4(BEST1):c.342C>T (p.Val114=) rs1162944741 0.00002
NM_004183.4(BEST1):c.954C>G (p.Ser318=) rs144231113 0.00002
NM_004183.4(BEST1):c.1100+18G>A rs1395057978 0.00001
NM_004183.4(BEST1):c.117C>T (p.Phe39=) rs1465926336 0.00001
NM_004183.4(BEST1):c.1212C>T (p.Pro404=) rs765611891 0.00001
NM_004183.4(BEST1):c.1353C>T (p.Asp451=) rs371105070 0.00001
NM_004183.4(BEST1):c.1458G>A (p.Pro486=) rs764636188 0.00001
NM_004183.4(BEST1):c.1504T>C (p.Leu502=) rs1591313203 0.00001
NM_004183.4(BEST1):c.150T>C (p.Tyr50=) rs763141918 0.00001
NM_004183.4(BEST1):c.152+15G>A rs1488178170 0.00001
NM_004183.4(BEST1):c.152+7C>T rs1305920977 0.00001
NM_004183.4(BEST1):c.159C>A (p.Ala53=) rs375873874 0.00001
NM_004183.4(BEST1):c.1626G>A (p.Thr542=) rs201492421 0.00001
NM_004183.4(BEST1):c.162C>T (p.Leu54=) rs368518407 0.00001
NM_004183.4(BEST1):c.1638G>A (p.Glu546=) rs1296812524 0.00001
NM_004183.4(BEST1):c.1653C>T (p.His551=) rs1479798000 0.00001
NM_004183.4(BEST1):c.165G>A (p.Thr55=) rs62637050 0.00001
NM_004183.4(BEST1):c.1729T>C (p.Leu577=) rs200653958 0.00001
NM_004183.4(BEST1):c.1755C>A (p.Ser585=) rs751838445 0.00001
NM_004183.4(BEST1):c.357G>A (p.Glu119=) rs751079575 0.00001
NM_004183.4(BEST1):c.387C>T (p.Ile129=) rs375950291 0.00001
NM_004183.4(BEST1):c.582G>A (p.Lys194=) rs546228761 0.00001
NM_004183.4(BEST1):c.585G>A (p.Ala195=) rs776011957 0.00001
NM_004183.4(BEST1):c.637-17C>T rs1565391842 0.00001
NM_004183.4(BEST1):c.699A>G (p.Pro233=) rs760816505 0.00001
NM_004183.4(BEST1):c.813C>T (p.Leu271=) rs370397270 0.00001
NM_004183.4(BEST1):c.822C>T (p.Pro274=) rs759678509 0.00001
NM_004183.4(BEST1):c.831G>A (p.Thr277=) rs62639274 0.00001
NM_004183.4(BEST1):c.867+16G>A rs758028526 0.00001
NM_004183.4(BEST1):c.99T>C (p.Tyr33=) rs373950010 0.00001
NM_004183.4(BEST1):c.1002G>A (p.Pro334=) rs372081341
NM_004183.4(BEST1):c.1017T>C (p.Asn339=) rs2134455868
NM_004183.4(BEST1):c.1053C>T (p.Ser351=)
NM_004183.4(BEST1):c.1059G>A (p.Gln353=)
NM_004183.4(BEST1):c.1095C>T (p.Asn365=)
NM_004183.4(BEST1):c.1100+12G>A
NM_004183.4(BEST1):c.1101-14C>A
NM_004183.4(BEST1):c.1101-7T>C
NM_004183.4(BEST1):c.1102C>T (p.Leu368=)
NM_004183.4(BEST1):c.1122G>A (p.Glu374=) rs2134467975
NM_004183.4(BEST1):c.1180C>T (p.Leu394=) rs2134468496
NM_004183.4(BEST1):c.1206T>C (p.His402=) rs764148803
NM_004183.4(BEST1):c.1248G>A (p.Lys416=)
NM_004183.4(BEST1):c.1266C>T (p.His422=) rs1942163006
NM_004183.4(BEST1):c.1311G>A (p.Arg437=) rs760747956
NM_004183.4(BEST1):c.1317G>A (p.Gln439=)
NM_004183.4(BEST1):c.132C>T (p.Tyr44=)
NM_004183.4(BEST1):c.135C>T (p.Ile45=) rs2134410137
NM_004183.4(BEST1):c.1365T>A (p.Ser455=)
NM_004183.4(BEST1):c.1374G>A (p.Leu458=) rs980929355
NM_004183.4(BEST1):c.1407G>A (p.Gln469=)
NM_004183.4(BEST1):c.141C>A (p.Arg47=) rs2134410214
NM_004183.4(BEST1):c.1443A>G (p.Leu481=)
NM_004183.4(BEST1):c.1464G>A (p.Lys488=)
NM_004183.4(BEST1):c.1473T>C (p.Ser491=) rs1464468544
NM_004183.4(BEST1):c.1506A>G (p.Leu502=)
NM_004183.4(BEST1):c.1518T>C (p.Ser506=) rs1283936353
NM_004183.4(BEST1):c.1527C>T (p.Ala509=)
NM_004183.4(BEST1):c.153-13C>A
NM_004183.4(BEST1):c.153-18C>A rs568192399
NM_004183.4(BEST1):c.1680A>T (p.Pro560=)
NM_004183.4(BEST1):c.1722T>C (p.Tyr574=)
NM_004183.4(BEST1):c.1739+13C>T
NM_004183.4(BEST1):c.1739+14del
NM_004183.4(BEST1):c.1739+19C>A
NM_004183.4(BEST1):c.1740-18T>C rs2134480560
NM_004183.4(BEST1):c.1740-18_1740-17del
NM_004183.4(BEST1):c.225C>T (p.Leu75=) rs1941153193
NM_004183.4(BEST1):c.243G>A (p.Val81=)
NM_004183.4(BEST1):c.247+10C>A
NM_004183.4(BEST1):c.247+10C>G rs1173614954
NM_004183.4(BEST1):c.247+18G>A
NM_004183.4(BEST1):c.247+20T>A
NM_004183.4(BEST1):c.248-17C>T
NM_004183.4(BEST1):c.297C>T (p.Asn99=)
NM_004183.4(BEST1):c.318C>A (p.Leu106=) rs2134430461
NM_004183.4(BEST1):c.324C>T (p.Ser108=) rs1565388478
NM_004183.4(BEST1):c.342C>G (p.Val114=) rs1162944741
NM_004183.4(BEST1):c.360A>G (p.Gln120=)
NM_004183.4(BEST1):c.39C>T (p.Arg13=)
NM_004183.4(BEST1):c.474G>C (p.Val158=)
NM_004183.4(BEST1):c.481+11C>A
NM_004183.4(BEST1):c.481+11C>T
NM_004183.4(BEST1):c.481+12G>C rs888828739
NM_004183.4(BEST1):c.481+15A>G
NM_004183.4(BEST1):c.481+20C>T
NM_004183.4(BEST1):c.481+7_481+28del
NM_004183.4(BEST1):c.511T>C (p.Leu171=) rs2134437052
NM_004183.4(BEST1):c.522G>A (p.Leu174=) rs1302876995
NM_004183.4(BEST1):c.564T>C (p.Phe188=)
NM_004183.4(BEST1):c.60G>A (p.Leu20=) rs2134409489
NM_004183.4(BEST1):c.628C>T (p.Leu210=)
NM_004183.4(BEST1):c.636+18A>C rs2134437913
NM_004183.4(BEST1):c.637-19C>T rs1237256525
NM_004183.4(BEST1):c.66G>A (p.Leu22=) rs2134409545
NM_004183.4(BEST1):c.681C>T (p.Tyr227=)
NM_004183.4(BEST1):c.69C>T (p.Cys23=) rs1465486114
NM_004183.4(BEST1):c.714+17T>C
NM_004183.4(BEST1):c.715-10_715-9insACCTCCTCC rs750482181
NM_004183.4(BEST1):c.715-15_715-14insTCTCCTCCT rs1565393472
NM_004183.4(BEST1):c.715-18TCC[10]
NM_004183.4(BEST1):c.715-18TCC[6] rs1805182
NM_004183.4(BEST1):c.715-18TCC[7] rs1805182
NM_004183.4(BEST1):c.715-18TCC[9] rs1805182
NM_004183.4(BEST1):c.715-19_715-18insCCCTCCTCC
NM_004183.4(BEST1):c.715-4_715-3insTCCTCCTCT
NM_004183.4(BEST1):c.720G>C (p.Val240=) rs281865281
NM_004183.4(BEST1):c.723T>C (p.Thr241=) rs2134444859
NM_004183.4(BEST1):c.774G>A (p.Leu258=) rs2134445166
NM_004183.4(BEST1):c.78C>T (p.Gly26=) rs768284216
NM_004183.4(BEST1):c.804G>A (p.Glu268=) rs778715415
NM_004183.4(BEST1):c.810C>T (p.Asp270=) rs771924494
NM_004183.4(BEST1):c.819G>T (p.Val273=) rs1941614432
NM_004183.4(BEST1):c.840G>A (p.Gln280=) rs2134445577
NM_004183.4(BEST1):c.84C>T (p.Ile28=)
NM_004183.4(BEST1):c.852T>C (p.Tyr284=)
NM_004183.4(BEST1):c.867+13A>G rs1346516529
NM_004183.4(BEST1):c.867+97G>T rs554725612
NM_004183.4(BEST1):c.868-9G>A
NM_004183.4(BEST1):c.93G>A (p.Leu31=) rs1011302811
NM_004183.4(BEST1):c.948+10G>A rs2134453772
NM_004183.4(BEST1):c.948+16G>A
NM_004183.4(BEST1):c.948+8G>A
NM_004183.4(BEST1):c.949-14T>C
NM_004183.4(BEST1):c.949-17_949-16del rs774668020
NM_004183.4(BEST1):c.949-8G>C
NM_004183.4(BEST1):c.963T>C (p.Ala321=)

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