ClinVar Miner

List of variants in gene SPTB reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His) rs146513976 0.00045
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser) rs143599352 0.00026
NM_001355436.2(SPTB):c.1261G>C (p.Glu421Gln) rs142982338 0.00025
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) rs375816870 0.00020
NM_001355436.2(SPTB):c.1182+3A>G rs45556435 0.00019
NM_001355436.2(SPTB):c.4891C>T (p.Arg1631Cys) rs372503030 0.00011
NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn) rs200508249 0.00011
NM_001355436.2(SPTB):c.3395C>T (p.Thr1132Met) rs186859277 0.00009
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) rs141173028 0.00009
NM_001355436.2(SPTB):c.6313T>G (p.Ser2105Ala) rs749123042 0.00009
NM_001355436.2(SPTB):c.3029G>A (p.Arg1010His) rs556377923 0.00007
NM_001355436.2(SPTB):c.2290C>T (p.Arg764Trp) rs376198076 0.00006
NM_001355436.2(SPTB):c.5726T>C (p.Phe1909Ser) rs576500528 0.00006
NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr) rs112462309 0.00006
NM_001355436.2(SPTB):c.5090G>A (p.Arg1697Gln) rs199551302 0.00005
NM_001355436.2(SPTB):c.1492C>T (p.Arg498Cys) rs144624027 0.00004
NM_001355436.2(SPTB):c.3622C>T (p.Arg1208Trp) rs374240422 0.00004
NM_001355436.2(SPTB):c.5036C>T (p.Ala1679Val) rs774655120 0.00004
NM_001355436.2(SPTB):c.6193T>G (p.Phe2065Val) rs143894722 0.00004
NM_001355436.2(SPTB):c.4147C>A (p.Leu1383Met) rs367610564 0.00003
NM_001355436.2(SPTB):c.5287A>G (p.Ser1763Gly) rs200617821 0.00003
NM_001355436.2(SPTB):c.5668G>A (p.Asp1890Asn) rs757030587 0.00003
NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys) rs755636829 0.00002
NM_001355436.2(SPTB):c.5267G>T (p.Arg1756Leu) rs776376302 0.00002
NM_001355436.2(SPTB):c.5737C>T (p.Arg1913Cys) rs752611530 0.00002
NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro) rs929734499 0.00002
NM_001355436.2(SPTB):c.2858C>G (p.Ala953Gly) rs983201841 0.00001
NM_001355436.2(SPTB):c.3010G>A (p.Val1004Met) rs779906104 0.00001
NM_001355436.2(SPTB):c.4273G>A (p.Glu1425Lys) rs781231618 0.00001
NM_001355436.2(SPTB):c.5222C>T (p.Ala1741Val) rs745940095 0.00001
NM_001355436.2(SPTB):c.5486G>A (p.Ser1829Asn) rs766226678 0.00001
NM_001355436.2(SPTB):c.5863C>T (p.Arg1955Trp) rs747917733 0.00001
NM_001355436.2(SPTB):c.1122A>C (p.Arg374Ser) rs1594787664
NM_001355436.2(SPTB):c.1342-7G>A rs2082754554
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln) rs1452760098
NM_001355436.2(SPTB):c.155G>T (p.Arg52Leu) rs1452760098
NM_001355436.2(SPTB):c.1603C>A (p.Gln535Lys)
NM_001355436.2(SPTB):c.1832G>A (p.Arg611His)
NM_001355436.2(SPTB):c.2059C>T (p.Arg687Cys)
NM_001355436.2(SPTB):c.2165C>T (p.Ser722Leu)
NM_001355436.2(SPTB):c.2472G>C (p.Gln824His)
NM_001355436.2(SPTB):c.3409C>A (p.Leu1137Met) rs776879148
NM_001355436.2(SPTB):c.3649A>G (p.Met1217Val)
NM_001355436.2(SPTB):c.3836T>A (p.Phe1279Tyr)
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr) rs2082930394
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) rs2082929857
NM_001355436.2(SPTB):c.443G>T (p.Gly148Val)
NM_001355436.2(SPTB):c.4453C>T (p.Arg1485Trp) rs373557486
NM_001355436.2(SPTB):c.475-3C>G rs1373470306
NM_001355436.2(SPTB):c.4934G>A (p.Ser1645Asn)
NM_001355436.2(SPTB):c.5185C>G (p.Arg1729Gly) rs753928257
NM_001355436.2(SPTB):c.5275G>A (p.Asp1759Asn)
NM_001355436.2(SPTB):c.5506C>T (p.Arg1836Trp)
NM_001355436.2(SPTB):c.5708C>T (p.Ala1903Val)
NM_001355436.2(SPTB):c.5799-3C>A rs757579872
NM_001355436.2(SPTB):c.6379C>A (p.Gln2127Lys)
NM_001355436.2(SPTB):c.901_903del (p.Glu301del) rs1594790255
NM_001355436.2(SPTB):c.909G>A (p.Met303Ile)

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