ClinVar Miner

List of variants in gene BLTP1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384125.1(BLTP1):c.7317+100C>A rs7664976 0.98445
NM_001384125.1(BLTP1):c.2475+17G>C rs6534345 0.96625
NM_001384125.1(BLTP1):c.627+95G>A rs7670081 0.96176
NM_001384125.1(BLTP1):c.6983-186T>C rs6827756 0.62667
NM_001384125.1(BLTP1):c.1655-9C>T rs78292470 0.46182
NM_001384125.1(BLTP1):c.7318-69C>T rs7683061 0.37656
NM_001384125.1(BLTP1):c.12617-80T>C rs7699742 0.28818
NM_001384125.1(BLTP1):c.4743-209A>G rs59294813 0.28613
NM_001384125.1(BLTP1):c.13545-212G>T rs57048617 0.27053
NM_001384125.1(BLTP1):c.1498+159T>C rs6534344 0.25499
NM_001384125.1(BLTP1):c.9870C>T (p.Ala3290=) rs7688384 0.24881
NM_001384125.1(BLTP1):c.6075-60G>A rs66570627 0.24675
NM_001384125.1(BLTP1):c.4671+111A>G rs7657746 0.24671
NM_001384125.1(BLTP1):c.822-199A>G rs7687716 0.24663
NM_001384125.1(BLTP1):c.9388+156C>T rs13151966 0.24661
NM_001384125.1(BLTP1):c.6982+147G>T rs11731632 0.24658
NM_001384125.1(BLTP1):c.2712T>A (p.Pro904=) rs7658836 0.23884
NM_001384125.1(BLTP1):c.1932-87A>G rs7656479 0.23738
NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=) rs45574236 0.23708
NM_001384125.1(BLTP1):c.6378+128C>T rs45500303 0.23700
NM_001384125.1(BLTP1):c.9037+152A>G rs45520839 0.23693
NM_001384125.1(BLTP1):c.821+92A>C rs67625562 0.23685
NM_001384125.1(BLTP1):c.901+120C>A rs68107102 0.23538
NM_001384125.1(BLTP1):c.15048T>C (p.His5016=) rs1127348 0.16698
NM_001384125.1(BLTP1):c.902-32A>G rs72687029 0.16659
NM_001384125.1(BLTP1):c.7141+72G>A rs45515895 0.16234
NM_001384125.1(BLTP1):c.6762+32C>T rs45495097 0.13239
NM_001384125.1(BLTP1):c.2038+169G>A rs10023971 0.13194
NM_001384125.1(BLTP1):c.1655-4G>T rs747492980 0.12286
NM_001384125.1(BLTP1):c.7493+189C>T rs4833246 0.09346
NM_001384125.1(BLTP1):c.11260-209T>C rs16997701 0.07940
NM_001384125.1(BLTP1):c.628-31A>G rs10009888 0.07008
NM_001384125.1(BLTP1):c.2922+148C>G rs72925942 0.06858
NM_001384125.1(BLTP1):c.6315A>G (p.Leu2105=) rs28520439 0.06849
NM_001384125.1(BLTP1):c.1498+96A>G rs10034361 0.06847
NM_001384125.1(BLTP1):c.294-167C>T rs28602944 0.06845
NM_001384125.1(BLTP1):c.215-26C>T rs10021037 0.06841
NM_001384125.1(BLTP1):c.8798+175A>T rs10016215 0.06833
NM_001384125.1(BLTP1):c.14580G>A (p.Leu4860=) rs62321696 0.06762
NM_001384125.1(BLTP1):c.2933T>C (p.Ile978Thr) rs6848868 0.06614
NM_001384125.1(BLTP1):c.1209+9T>C rs62323937 0.06071
NM_001384125.1(BLTP1):c.8201-69A>G rs45558836 0.05840
NM_001384125.1(BLTP1):c.1053-61T>C rs62323936 0.05832
NM_001384125.1(BLTP1):c.8540+91A>G rs62323956 0.05832
NM_001384125.1(BLTP1):c.1655-117G>A rs77409703 0.05729
NM_001384125.1(BLTP1):c.13394-218T>G rs62321695 0.05065
NM_001384125.1(BLTP1):c.7317+81C>A rs77574900 0.05064
NM_001384125.1(BLTP1):c.-33-92C>T rs62323927 0.05063
NM_001384125.1(BLTP1):c.14900-9T>C rs62321698 0.05059
NM_001384125.1(BLTP1):c.1752+108T>A rs75034409 0.05051
NM_001384125.1(BLTP1):c.12275-105G>A rs62321691 0.05041
NM_001384125.1(BLTP1):c.10312+168G>C rs73846628 0.04777
NM_001384125.1(BLTP1):c.12274+56T>C rs73846636 0.04698
NM_001384125.1(BLTP1):c.10312+103A>T rs72925991 0.03924
NM_001384125.1(BLTP1):c.14620A>G (p.Thr4874Ala) rs10017270 0.03913
NM_001384125.1(BLTP1):c.12997+175T>A rs9884941 0.03910
NM_001384125.1(BLTP1):c.14073G>A (p.Lys4691=) rs17005674 0.03908
NM_001384125.1(BLTP1):c.5184+22A>T rs28539255 0.03907
NM_001384125.1(BLTP1):c.13896-37G>A rs10518399 0.03906
NM_001384125.1(BLTP1):c.4916+4T>G rs6830417 0.03894
NM_001384125.1(BLTP1):c.1289-119G>A rs72925911 0.03893
NM_001384125.1(BLTP1):c.4494C>T (p.Pro1498=) rs10023835 0.03890
NM_001384125.1(BLTP1):c.4672-107A>G rs10010628 0.03889
NM_001384125.1(BLTP1):c.4917-82T>C rs10034342 0.03889
NM_001384125.1(BLTP1):c.5923-227C>A rs72925952 0.03889
NM_001384125.1(BLTP1):c.1752+50T>G rs72925923 0.03887
NM_001384125.1(BLTP1):c.3575-17A>G rs9994885 0.03887
NM_001384125.1(BLTP1):c.8447-62T>G rs72925965 0.03886
NM_001384125.1(BLTP1):c.8787G>A (p.Gln2929=) rs28651726 0.03885
NM_001384125.1(BLTP1):c.13318A>G (p.Thr4440Ala) rs2306369 0.03884
NM_001384125.1(BLTP1):c.946A>G (p.Ser316Gly) rs74643640 0.03804
NM_001384125.1(BLTP1):c.6664C>T (p.Arg2222Trp) rs45510500 0.03416
NM_001384125.1(BLTP1):c.12818-196G>A rs28525619 0.03219
NM_001384125.1(BLTP1):c.13896-77G>A rs28445720 0.03217
NM_001384125.1(BLTP1):c.4916+59G>A rs6853719 0.03014
NM_001384125.1(BLTP1):c.8798+129G>A rs45464591 0.02961
NM_001384125.1(BLTP1):c.3833+78T>C rs58477977 0.02960
NM_001384125.1(BLTP1):c.4916+186T>G rs59014248 0.02960
NM_001384125.1(BLTP1):c.5184+119G>A rs73844501 0.02960
NM_001384125.1(BLTP1):c.6619+212T>C rs73846603 0.02959
NM_001384125.1(BLTP1):c.11514-77A>G rs59319667 0.02955
NM_001384125.1(BLTP1):c.215-200A>G rs73844481 0.02955
NM_001384125.1(BLTP1):c.293+82G>C rs73844482 0.02954
NM_001384125.1(BLTP1):c.5361A>G (p.Ser1787=) rs73844502 0.02953
NM_001384125.1(BLTP1):c.5853T>A (p.Asp1951Glu) rs56363411 0.02451
NM_001384125.1(BLTP1):c.3834-25G>A rs73844498 0.02316
NM_001384125.1(BLTP1):c.14764+47C>G rs78347962 0.02022
NM_001384125.1(BLTP1):c.11260-23A>G rs73846635 0.01757
NM_001384125.1(BLTP1):c.11514-43T>C rs148316119 0.00873
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg) rs75923324 0.00161
NM_001384125.1(BLTP1):c.2935C>T (p.Pro979Ser) rs201348504 0.00055
NM_001384125.1(BLTP1):c.911C>T (p.Pro304Leu) rs199861012 0.00044
NM_001384125.1(BLTP1):c.5372G>A (p.Arg1791Lys) rs200778020 0.00015
NM_001384125.1(BLTP1):c.8411T>C (p.Ile2804Thr) rs201636127 0.00014
NM_001384125.1(BLTP1):c.505C>T (p.Arg169Trp) rs185301281 0.00011
NM_001384125.1(BLTP1):c.13162A>G (p.Ile4388Val) rs201342483 0.00009
NM_001384125.1(BLTP1):c.11771C>T (p.Pro3924Leu) rs745511970 0.00008
NM_001384125.1(BLTP1):c.2596G>A (p.Val866Ile) rs943393659 0.00006
NM_001384125.1(BLTP1):c.3221A>G (p.Asn1074Ser) rs202171900 0.00006
NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys) rs770791100 0.00006
NM_001384125.1(BLTP1):c.793C>T (p.Pro265Ser) rs754477649 0.00005
NM_001384125.1(BLTP1):c.11158T>A (p.Ser3720Thr) rs370015582 0.00004
NM_001384125.1(BLTP1):c.1498+4A>G rs750465235 0.00004
NM_001384125.1(BLTP1):c.5037+4A>G rs141505433 0.00004
NM_001384125.1(BLTP1):c.1574T>C (p.Ile525Thr) rs755838399 0.00002
NM_001384125.1(BLTP1):c.11863A>G (p.Ser3955Gly) rs1424394590 0.00001
NM_001384125.1(BLTP1):c.1270A>G (p.Met424Val) rs1200633094 0.00001
NM_001384125.1(BLTP1):c.13135A>C (p.Thr4379Pro) rs746447718 0.00001
NM_001384125.1(BLTP1):c.10258G>C (p.Val3420Leu)
NM_001384125.1(BLTP1):c.11183A>G (p.Asn3728Ser)
NM_001384125.1(BLTP1):c.1123G>A (p.Gly375Arg)
NM_001384125.1(BLTP1):c.11827G>T (p.Gly3943Cys) rs201638195
NM_001384125.1(BLTP1):c.11911-180G>C rs10003938
NM_001384125.1(BLTP1):c.12112+49G>T rs80165265
NM_001384125.1(BLTP1):c.13150A>G (p.Thr4384Ala) rs761146461
NM_001384125.1(BLTP1):c.13271C>G (p.Pro4424Arg) rs1286446467
NM_001384125.1(BLTP1):c.13387C>T (p.Arg4463Ter) rs1366683564
NM_001384125.1(BLTP1):c.13393+137del rs35587984
NM_001384125.1(BLTP1):c.13592G>A (p.Ser4531Asn)
NM_001384125.1(BLTP1):c.13793C>T (p.Ser4598Leu) rs2150309986
NM_001384125.1(BLTP1):c.1381-16_1381-12del rs77249793
NM_001384125.1(BLTP1):c.13928A>C (p.Asp4643Ala) rs2150314152
NM_001384125.1(BLTP1):c.14051C>T (p.Pro4684Leu)
NM_001384125.1(BLTP1):c.14159T>C (p.Val4720Ala)
NM_001384125.1(BLTP1):c.14762A>C (p.Gln4921Pro)
NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp) rs1735635931
NM_001384125.1(BLTP1):c.1664C>T (p.Ala555Val) rs760575832
NM_001384125.1(BLTP1):c.1753-155del rs60807007
NM_001384125.1(BLTP1):c.1753-156_1753-155del rs60807007
NM_001384125.1(BLTP1):c.1786G>A (p.Asp596Asn)
NM_001384125.1(BLTP1):c.1925A>G (p.Gln642Arg)
NM_001384125.1(BLTP1):c.2014G>T (p.Ala672Ser) rs776626539
NM_001384125.1(BLTP1):c.2019T>G (p.Asp673Glu)
NM_001384125.1(BLTP1):c.2129G>A (p.Arg710His)
NM_001384125.1(BLTP1):c.2902C>T (p.Arg968Cys) rs1051597475
NM_001384125.1(BLTP1):c.3094G>A (p.Glu1032Lys)
NM_001384125.1(BLTP1):c.3391G>A (p.Gly1131Ser)
NM_001384125.1(BLTP1):c.3413G>C (p.Gly1138Ala) rs2148599444
NM_001384125.1(BLTP1):c.3575-91dup rs11455945
NM_001384125.1(BLTP1):c.3575-92_3575-91dup rs11455945
NM_001384125.1(BLTP1):c.3761C>T (p.Ser1254Leu)
NM_001384125.1(BLTP1):c.3764C>T (p.Ser1255Phe) rs199913101
NM_001384125.1(BLTP1):c.4057C>G (p.Leu1353Val) rs1487633025
NM_001384125.1(BLTP1):c.4733C>A (p.Ser1578Ter)
NM_001384125.1(BLTP1):c.5056A>G (p.Ile1686Val)
NM_001384125.1(BLTP1):c.5126C>A (p.Thr1709Lys)
NM_001384125.1(BLTP1):c.5312+159_5312+160del rs141602122
NM_001384125.1(BLTP1):c.5969T>C (p.Met1990Thr)
NM_001384125.1(BLTP1):c.6075-161dup rs60003518
NM_001384125.1(BLTP1):c.613G>A (p.Val205Ile)
NM_001384125.1(BLTP1):c.6197T>A (p.Met2066Lys)
NM_001384125.1(BLTP1):c.628-3del rs75241146
NM_001384125.1(BLTP1):c.648T>G (p.Asn216Lys) rs1553984252
NM_001384125.1(BLTP1):c.6705G>C (p.Glu2235Asp)
NM_001384125.1(BLTP1):c.6835C>T (p.Arg2279Cys)
NM_001384125.1(BLTP1):c.683A>G (p.Asp228Gly) rs1553984321
NM_001384125.1(BLTP1):c.7096C>T (p.Gln2366Ter) rs2149077237
NM_001384125.1(BLTP1):c.7387A>G (p.Met2463Val)
NM_001384125.1(BLTP1):c.8423T>G (p.Phe2808Cys)
NM_001384125.1(BLTP1):c.9009G>A (p.Met3003Ile) rs2149331418
NM_001384125.1(BLTP1):c.9389-27del rs10718670
NM_001384125.1(BLTP1):c.9389-27dup rs10718670
NM_001384125.1(BLTP1):c.944T>G (p.Met315Arg)
NM_001384125.1(BLTP1):c.9673-122C>G rs45439292
NM_001384125.1(BLTP1):c.9673-153dup rs142052296
NM_001384125.1(BLTP1):c.98-174C>T rs72923986
NM_001384125.1(BLTP1):c.9875A>T (p.Tyr3292Phe)
NM_001384125.1(BLTP1):c.997dup (p.Ile333fs) rs886041465
NM_015312.4(BLTP1):c.7105C>A (p.Pro2369Thr) rs534326417
NM_015312.4(BLTP1):c.808C>T (p.Leu270Phe) rs1741152009

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.