ClinVar Miner

List of variants in gene BLTP1 studied for Alkuraya-Kucinskas syndrome

Included ClinVar conditions (1):
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001384125.1(BLTP1):c.2475+17G>C rs6534345 0.96625
NM_001384125.1(BLTP1):c.9870C>T (p.Ala3290=) rs7688384 0.24881
NM_001384125.1(BLTP1):c.2712T>A (p.Pro904=) rs7658836 0.23884
NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=) rs45574236 0.23708
NM_001384125.1(BLTP1):c.4538T>C (p.Ile1513Thr) rs111840903 0.00224
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg) rs75923324 0.00161
NM_001384125.1(BLTP1):c.3046G>A (p.Gly1016Ser) rs186329526 0.00032
NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg) rs188182890 0.00030
NM_001384125.1(BLTP1):c.8411T>C (p.Ile2804Thr) rs201636127 0.00014
NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys) rs770791100 0.00006
NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr) rs755836698 0.00004
NM_001384125.1(BLTP1):c.12610A>C (p.Ile4204Leu) rs534873587 0.00003
NM_001384125.1(BLTP1):c.2992G>T (p.Asp998Tyr) rs751410260 0.00002
NM_001384125.1(BLTP1):c.10994G>A (p.Arg3665Gln) rs1241429875 0.00001
NM_001384125.1(BLTP1):c.11413C>T (p.Arg3805Ter) rs527467559 0.00001
NM_001384125.1(BLTP1):c.13702+3A>G rs745885363 0.00001
NM_001384125.1(BLTP1):c.3263del (p.His1088fs) rs1245182875 0.00001
NM_001384125.1(BLTP1):c.4064C>T (p.Ser1355Leu) rs1000133230 0.00001
NM_001384125.1(BLTP1):c.439C>T (p.Arg147Cys) rs779054376 0.00001
NM_001384125.1(BLTP1):c.10079C>G (p.Thr3360Ser)
NM_001384125.1(BLTP1):c.10153G>C (p.Gly3385Arg) rs1554059454
NM_001384125.1(BLTP1):c.10451T>C (p.Ile3484Thr)
NM_001384125.1(BLTP1):c.10741-5T>C
NM_001384125.1(BLTP1):c.10784C>T (p.Pro3595Leu)
NM_001384125.1(BLTP1):c.10872-1G>C
NM_001384125.1(BLTP1):c.11368C>T (p.Pro3790Ser) rs2150004811
NM_001384125.1(BLTP1):c.11514-1G>A rs2150047294
NM_001384125.1(BLTP1):c.1156C>T (p.Arg386Ter) rs1188013106
NM_001384125.1(BLTP1):c.11650C>T (p.Arg3884Trp)
NM_001384125.1(BLTP1):c.1183del (p.Ile395fs) rs1579165246
NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter) rs1787740370
NM_001384125.1(BLTP1):c.12407G>A (p.Arg4136Gln) rs1787752479
NM_001384125.1(BLTP1):c.12617-2A>G
NM_001384125.1(BLTP1):c.12692G>C (p.Ser4231Thr)
NM_001384125.1(BLTP1):c.1297C>G (p.Pro433Ala)
NM_001384125.1(BLTP1):c.12997+1G>T
NM_001384125.1(BLTP1):c.12997G>A (p.Ala4333Thr)
NM_001384125.1(BLTP1):c.1310G>A (p.Gly437Glu)
NM_001384125.1(BLTP1):c.13411T>A (p.Ser4471Thr)
NM_001384125.1(BLTP1):c.1381-2A>G rs1579206545
NM_001384125.1(BLTP1):c.13909C>G (p.His4637Asp) rs1791016751
NM_001384125.1(BLTP1):c.14230A>G (p.Met4744Val)
NM_001384125.1(BLTP1):c.14628G>T (p.Lys4876Asn) rs1433976424
NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp) rs1735635931
NM_001384125.1(BLTP1):c.14935G>C (p.Gly4979Arg)
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) rs730882245
NM_001384125.1(BLTP1):c.1654G>A (p.Val552Met)
NM_001384125.1(BLTP1):c.1752+2T>G
NM_001384125.1(BLTP1):c.1957G>T (p.Val653Phe)
NM_001384125.1(BLTP1):c.2171A>G (p.His724Arg)
NM_001384125.1(BLTP1):c.2209_2247+201dup rs2149866887
NM_001384125.1(BLTP1):c.2308G>A (p.Val770Ile)
NM_001384125.1(BLTP1):c.2431A>G (p.Thr811Ala) rs1753117321
NM_001384125.1(BLTP1):c.2783C>T (p.Thr928Ile) rs2150075716
NM_001384125.1(BLTP1):c.2902C>T (p.Arg968Cys) rs1051597475
NM_001384125.1(BLTP1):c.3389T>C (p.Leu1130Pro)
NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs) rs775516790
NM_001384125.1(BLTP1):c.3925C>T (p.Arg1309Ter)
NM_001384125.1(BLTP1):c.4118C>G (p.Ser1373Cys) rs1561108343
NM_001384125.1(BLTP1):c.4287dup (p.Arg1430Ter) rs2148690880
NM_001384125.1(BLTP1):c.4504T>A (p.Cys1502Ser)
NM_001384125.1(BLTP1):c.4533G>C (p.Gln1511His) rs1712573292
NM_001384125.1(BLTP1):c.4752T>G (p.Tyr1584Ter)
NM_001384125.1(BLTP1):c.4916+2T>C
NM_001384125.1(BLTP1):c.5599G>A (p.Val1867Met) rs1554025656
NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter)
NM_001384125.1(BLTP1):c.822-3T>C rs1216973357
NM_001384125.1(BLTP1):c.8713C>G (p.Pro2905Ala)
NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter)
NM_001384125.1(BLTP1):c.901+49_901+53dup
NM_001384125.1(BLTP1):c.9082C>T (p.Arg3028Cys)
NM_001384125.1(BLTP1):c.9209T>G (p.Val3070Gly)
NM_001384125.1(BLTP1):c.9222T>G (p.Asp3074Glu)
NM_001384125.1(BLTP1):c.9225A>C (p.Glu3075Asp) rs1433589281
NM_001384125.1(BLTP1):c.9370_9371dup (p.Val3124_Ile3125insTer) rs2149413101
NM_001384125.1(BLTP1):c.9505A>G (p.Thr3169Ala)

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