ClinVar Miner

List of variants in gene BEST1 reported by Blueprint Genetics

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004183.4(BEST1):c.1174C>T (p.Arg392Cys) rs762903676 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.286C>G (p.Gln96Glu) rs980876322 0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209 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.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
NM_004183.4(BEST1):c.1062C>G (p.Phe354Leu) rs1265837064
NM_004183.4(BEST1):c.1100+1_1100+10del rs1941898895
NM_004183.4(BEST1):c.1470_1471del (p.His490fs) rs281865528
NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter) rs1942208203
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.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.256G>A (p.Val86Met) rs121918289
NM_004183.4(BEST1):c.28G>A (p.Ala10Thr) rs281865206
NM_004183.4(BEST1):c.35C>G (p.Ala12Gly) rs1940692591
NM_004183.4(BEST1):c.530C>T (p.Pro177Leu) rs1360056203
NM_004183.4(BEST1):c.539T>C (p.Met180Thr) rs1941427913
NM_004183.4(BEST1):c.559T>G (p.Trp187Gly) rs1941429437
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) rs28941469
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.77G>A (p.Gly26Asp) rs748684128
NM_004183.4(BEST1):c.815T>C (p.Val272Ala) rs536333519
NM_004183.4(BEST1):c.874G>A (p.Glu292Lys) rs886039311
NM_004183.4(BEST1):c.898G>A (p.Glu300Lys) rs281865258
NM_004183.4(BEST1):c.900G>C (p.Glu300Asp) rs1805144
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu) rs281865261
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile) rs281865269
NM_004183.4(BEST1):c.97T>G (p.Tyr33Asp) rs994248373

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