ClinVar Miner

List of variants in gene VPS13B reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 289
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_152564.5(VPS13B):c.*702dup rs200421894 0.03823
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_152564.4(VPS13B):c.*1932T>G rs10106711 0.01850
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_152564.5(VPS13B):c.*336_*353dup rs554420171 0.01237
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_152564.5(VPS13B):c.*1539A>G rs80237506 0.00812
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_152564.5(VPS13B):c.*655G>C rs78305289 0.00328
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.*61G>A rs189939258 0.00218
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_152564.5(VPS13B):c.*1355T>G rs562826355 0.00204
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_152564.5(VPS13B):c.*202T>A rs201566966 0.00108
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_152564.5(VPS13B):c.*831C>T rs547185676 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_152564.5(VPS13B):c.*924A>C rs186225330 0.00066
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.3211-11T>C rs77129176 0.00050
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_152564.5(VPS13B):c.*743T>G rs144603951 0.00038
NM_152564.5(VPS13B):c.10867+11A>G rs376656751 0.00034
NM_152564.5(VPS13B):c.*305G>A rs149912942 0.00032
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00031
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 0.00030
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=) rs142380266 0.00029
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_152564.5(VPS13B):c.*1345C>T rs778566330 0.00021
NM_152564.5(VPS13B):c.*745C>G rs138761680 0.00021
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00021
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00014
NM_152564.5(VPS13B):c.2333+12A>T rs373498932 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.4746-7T>C rs201136777 0.00014
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) rs144223843 0.00014
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00011
NM_152564.5(VPS13B):c.*1207G>C rs182082022 0.00010
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser) rs778256097 0.00010
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) rs374124369 0.00009
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val) rs369100428 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) rs182347753 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln) rs147907236 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val) rs145265055 0.00007
NM_152564.5(VPS13B):c.*304C>T rs913240465 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn) rs1419202718 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 0.00006
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) rs140061281 0.00006
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_152564.5(VPS13B):c.*705T>C rs886062554 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp) rs117357319 0.00005
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe) rs763052877 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_152564.5(VPS13B):c.*1540T>C rs148026916 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) rs370172252 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met) rs199574731 0.00004
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=) rs199881514 0.00004
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) rs755227174 0.00004
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) rs750125340 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
NM_152564.5(VPS13B):c.*140G>A rs535987441 0.00003
NM_152564.5(VPS13B):c.*637C>G rs565441903 0.00003
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile) rs781253026 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208 0.00003
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His) rs200229383 0.00003
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) rs1226670439 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys) rs886062535 0.00003
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 0.00003
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp) rs560723051 0.00002
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=) rs199868590 0.00002
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) rs775071483 0.00002
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala) rs752808333 0.00002
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln) rs138148013 0.00002
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His) rs398124338 0.00002
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys) rs753075331 0.00002
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln) rs777528760 0.00002
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu) rs146883974 0.00002
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) rs775601813 0.00002
NM_152564.5(VPS13B):c.*1037C>A rs1246944981 0.00001
NM_152564.5(VPS13B):c.*1239C>T rs1817725052 0.00001
NM_152564.5(VPS13B):c.*438C>T rs1412435648 0.00001
NM_152564.5(VPS13B):c.*665T>C rs1326591170 0.00001
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn) rs759636784 0.00001
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) rs368041601 0.00001
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) rs79324124 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His) rs748531719 0.00001
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile) rs752506829 0.00001
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536 0.00001
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His) rs756072319 0.00001
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln) rs1279523650 0.00001
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser) rs757950339 0.00001
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile) rs770669224 0.00001
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val) rs187596259 0.00001
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr) rs146540735 0.00001
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) rs771916272 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro) rs1366756885 0.00001
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=) rs774730061 0.00001
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr) rs747340772 0.00001
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe) rs1001219779 0.00001
NM_152564.5(VPS13B):c.6866-14C>A rs1277958075 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg) rs778935189 0.00001
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val) rs1451188144 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg) rs760112876 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met) rs1297641779 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=) rs753530965 0.00001
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) rs78277780 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 0.00001
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys) rs756531043 0.00001
NM_152564.5(VPS13B):c.*1101TGAT[3] rs543048641
NM_152564.5(VPS13B):c.*1106_*1108dup rs765534822
NM_152564.5(VPS13B):c.*1211G>A rs1025183545
NM_152564.5(VPS13B):c.*1212TC[4] rs1258731393
NM_152564.5(VPS13B):c.*1431G>A rs866313484
NM_152564.5(VPS13B):c.*1483C>A rs886062558
NM_152564.5(VPS13B):c.*1504_*1507dup rs747583708
NM_152564.5(VPS13B):c.*1570G>A rs186440514
NM_152564.5(VPS13B):c.*1571A>G rs1817736511
NM_152564.5(VPS13B):c.*250_*252dup rs71274940
NM_152564.5(VPS13B):c.*270C>T rs886062550
NM_152564.5(VPS13B):c.*33_*36dup rs373852425
NM_152564.5(VPS13B):c.*374ATTT[1] rs374440758
NM_152564.5(VPS13B):c.*431TTA[1] rs10542428
NM_152564.5(VPS13B):c.*597_*598dup rs397791669
NM_152564.5(VPS13B):c.*700GAT[1] rs60078732
NM_152564.5(VPS13B):c.*701A>T rs932121133
NM_152564.5(VPS13B):c.*733A>T rs886062555
NM_152564.5(VPS13B):c.*740G>C rs886062556
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met) rs542986432
NM_152564.5(VPS13B):c.10061+4G>C rs964791071
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) rs535553836
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala) rs953219294
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg) rs886062549
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys) rs1816421633
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) rs758842658
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=) rs1810005490
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln) rs772958839
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg) rs886062534
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg) rs1813686473
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.2651-12A>G rs886062538
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro) rs886062539
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu) rs753607562
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=) rs140905518
NM_152564.5(VPS13B):c.3667-5C>G rs886062540
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg)
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala) rs1820051985
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val) rs886062541
NM_152564.5(VPS13B):c.4746-13G>A rs561446691
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys) rs180177360
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu) rs1824576572
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=) rs985853073
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) rs780314338
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser) rs1829388448
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn) rs886062542
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val) rs751559027
NM_152564.5(VPS13B):c.5908+14A>C rs886062543
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=) rs761542645
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg) rs183874686
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly) rs780093448
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val) rs774362514
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr) rs886062544
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val) rs765442907
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu) rs886062545
NM_152564.5(VPS13B):c.8621+4C>T rs1563489649
NM_152564.5(VPS13B):c.8793-7G>A rs886062547
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val) rs6992059
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe) rs1814517169
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=) rs886062548
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr) rs748030120
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu) rs1815137390
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) rs781004616
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys) rs1372759268
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734

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