ClinVar Miner

List of variants in gene BLTP1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_001384125.1(BLTP1):c.7317+100C>A rs7664976 0.98549
NM_001384125.1(BLTP1):c.2475+17G>C rs6534345 0.96870
NM_001384125.1(BLTP1):c.627+95G>A rs7670081 0.96436
NM_001384125.1(BLTP1):c.6983-186T>C rs6827756 0.62476
NM_001384125.1(BLTP1):c.1655-9C>T rs78292470 0.46182
NM_001384125.1(BLTP1):c.7318-69C>T rs7683061 0.38189
NM_001384125.1(BLTP1):c.12617-80T>C rs7699742 0.29172
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.9870C>T (p.Ala3290=) rs7688384 0.24881
NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=) rs45574236 0.24858
NM_001384125.1(BLTP1):c.9037+152A>G rs45520839 0.24834
NM_001384125.1(BLTP1):c.6378+128C>T rs45500303 0.24817
NM_001384125.1(BLTP1):c.1498+159T>C rs6534344 0.24705
NM_001384125.1(BLTP1):c.6075-60G>A rs66570627 0.24675
NM_001384125.1(BLTP1):c.901+120C>A rs68107102 0.24670
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.4671+111A>G rs7657746 0.23927
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.821+92A>C rs67625562 0.23685
NM_001384125.1(BLTP1):c.902-32A>G rs72687029 0.16659
NM_001384125.1(BLTP1):c.15048T>C (p.His5016=) rs1127348 0.16617
NM_001384125.1(BLTP1):c.7141+72G>A rs45515895 0.16234
NM_001384125.1(BLTP1):c.2038+169G>A rs10023971 0.13194
NM_001384125.1(BLTP1):c.6762+32C>T rs45495097 0.12711
NM_001384125.1(BLTP1):c.1655-4G>T rs747492980 0.12286
NM_001384125.1(BLTP1):c.7493+189C>T rs4833246 0.10065
NM_001384125.1(BLTP1):c.11260-209T>C rs16997701 0.08549
NM_001384125.1(BLTP1):c.1209+9T>C rs62323937 0.07058
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.294-167C>T rs28602944 0.06845
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.6315A>G (p.Leu2105=) rs28520439 0.06481
NM_001384125.1(BLTP1):c.1498+96A>G rs10034361 0.06477
NM_001384125.1(BLTP1):c.215-26C>T rs10021037 0.06471
NM_001384125.1(BLTP1):c.8201-69A>G rs45558836 0.05710
NM_001384125.1(BLTP1):c.1053-61T>C rs62323936 0.05702
NM_001384125.1(BLTP1):c.8540+91A>G rs62323956 0.05702
NM_001384125.1(BLTP1):c.1655-117G>A rs77409703 0.05345
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.14900-9T>C rs62321698 0.05059
NM_001384125.1(BLTP1):c.-33-92C>T rs62323927 0.05004
NM_001384125.1(BLTP1):c.1752+108T>A rs75034409 0.04992
NM_001384125.1(BLTP1):c.12275-105G>A rs62321691 0.04974
NM_001384125.1(BLTP1):c.12274+56T>C rs73846636 0.04698
NM_001384125.1(BLTP1):c.10312+168G>C rs73846628 0.04530
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.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.3575-17A>G rs9994885 0.03887
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.10312+103A>T rs72925991 0.03655
NM_001384125.1(BLTP1):c.14073G>A (p.Lys4691=) rs17005674 0.03642
NM_001384125.1(BLTP1):c.1752+50T>G rs72925923 0.03620
NM_001384125.1(BLTP1):c.8447-62T>G rs72925965 0.03620
NM_001384125.1(BLTP1):c.6664C>T (p.Arg2222Trp) rs45510500 0.03416
NM_001384125.1(BLTP1):c.13896-77G>A rs28445720 0.02987
NM_001384125.1(BLTP1):c.12818-196G>A rs28525619 0.02986
NM_001384125.1(BLTP1):c.3833+78T>C rs58477977 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.5361A>G (p.Ser1787=) rs73844502 0.02953
NM_001384125.1(BLTP1):c.8798+129G>A rs45464591 0.02856
NM_001384125.1(BLTP1):c.4916+186T>G rs59014248 0.02855
NM_001384125.1(BLTP1):c.293+82G>C rs73844482 0.02846
NM_001384125.1(BLTP1):c.4916+59G>A rs6853719 0.02797
NM_001384125.1(BLTP1):c.5853T>A (p.Asp1951Glu) rs56363411 0.02451
NM_001384125.1(BLTP1):c.3834-25G>A rs73844498 0.02252
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 0.00896
NM_001384125.1(BLTP1):c.98-174C>T rs72923986 0.00301
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg) rs75923324 0.00160
NM_001384125.1(BLTP1):c.911C>T (p.Pro304Leu) rs199861012 0.00042
NM_001384125.1(BLTP1):c.2935C>T (p.Pro979Ser) rs201348504 0.00033
NM_001384125.1(BLTP1):c.6705G>C (p.Glu2235Asp) rs764573485 0.00022
NM_001384125.1(BLTP1):c.8423T>G (p.Phe2808Cys) rs370801689 0.00019
NM_001384125.1(BLTP1):c.5372G>A (p.Arg1791Lys) rs200778020 0.00018
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 0.00007
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.944T>G (p.Met315Arg) rs758641131 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.5037+4A>G rs141505433 0.00004
NM_001384125.1(BLTP1):c.1498+4A>G rs750465235 0.00003
NM_001384125.1(BLTP1):c.3391G>A (p.Gly1131Ser) rs540034326 0.00003
NM_001384125.1(BLTP1):c.3761C>T (p.Ser1254Leu) rs370671592 0.00003
NM_001384125.1(BLTP1):c.1574T>C (p.Ile525Thr) rs755838399 0.00002
NM_001384125.1(BLTP1):c.11183A>G (p.Asn3728Ser) rs781560001 0.00001
NM_001384125.1(BLTP1):c.11863A>G (p.Ser3955Gly) rs1424394590 0.00001
NM_001384125.1(BLTP1):c.13135A>C (p.Thr4379Pro) rs746447718 0.00001
NM_001384125.1(BLTP1):c.14159T>C (p.Val4720Ala) rs750085209 0.00001
NM_001384125.1(BLTP1):c.5056A>G (p.Ile1686Val) rs1332193620 0.00001
NM_001384125.1(BLTP1):c.613G>A (p.Val205Ile) rs766455757 0.00001
NM_001384125.1(BLTP1):c.6835C>T (p.Arg2279Cys) rs376700430 0.00001
NM_001384125.1(BLTP1):c.10258G>C (p.Val3420Leu) rs775444513
NM_001384125.1(BLTP1):c.1123G>A (p.Gly375Arg) rs2480570255
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.1270A>G (p.Met424Val) rs1200633094
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) rs1790852019
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) rs1322919507
NM_001384125.1(BLTP1):c.14762A>C (p.Gln4921Pro) rs1364641964
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) rs777970047
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) rs1210955966
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.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.5126C>A (p.Thr1709Lys) rs186259238
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.6197T>A (p.Met2066Lys) rs2478906421
NM_001384125.1(BLTP1):c.628-3del rs75241146
NM_001384125.1(BLTP1):c.648T>G (p.Asn216Lys) rs1553984252
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.7105C>A (p.Pro2369Thr) rs534326417
NM_001384125.1(BLTP1):c.7387A>G (p.Met2463Val) rs2479514419
NM_001384125.1(BLTP1):c.808C>T (p.Leu270Phe) rs1741152009
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.9673-122C>G rs45439292
NM_001384125.1(BLTP1):c.9673-153dup rs142052296
NM_001384125.1(BLTP1):c.9875A>T (p.Tyr3292Phe) rs2481609252
NM_001384125.1(BLTP1):c.997dup (p.Ile333fs) rs886041465

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