ClinVar Miner

List of variants in gene BEST1 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.867+327T>G rs195160 0.86046
NM_004183.4(BEST1):c.636+44C>T rs195162 0.83711
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
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.213C>T (p.Ser71=) rs57132800 0.00289
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_004183.4(BEST1):c.482-15C>T rs201010315 0.00088
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675 0.00022
NM_004183.4(BEST1):c.*45T>C rs201586629 0.00015
NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys) rs139637557 0.00013
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) rs121918286 0.00004
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp) rs757536535 0.00003
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr) rs765604572 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004183.4(BEST1):c.954C>G (p.Ser318=) rs144231113 0.00002
NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys) rs779855350 0.00001
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu) rs886048428 0.00001
NM_004183.4(BEST1):c.152+6G>T rs764420497 0.00001
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg) rs1199787091 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 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.861G>C (p.Trp287Cys) rs1474961573 0.00001
NM_004183.4(BEST1):c.-66G>T rs886048425
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu) rs751707411
NM_004183.4(BEST1):c.1157A>C (p.His386Pro) rs886048427
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly) rs757181644
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala) rs281865283
NM_004183.4(BEST1):c.229C>A (p.Pro77Thr) rs1941154059
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004183.4(BEST1):c.351G>A (p.Lys117=) rs886048426
NM_004183.4(BEST1):c.362G>C (p.Gly121Ala)
NM_004183.4(BEST1):c.614T>C (p.Ile205Thr) rs267606680
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys) rs267606677
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) rs372989281
NM_004183.4(BEST1):c.868-99G>T rs195158

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