ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
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.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00047
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile) rs376498106 0.00042
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) rs376308074 0.00030
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
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.5890T>C (p.Ser1964Pro) rs148704031 0.00019
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.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) rs147099791 0.00016
NM_152564.5(VPS13B):c.4254T>G (p.His1418Gln) rs201349007 0.00015
NM_152564.5(VPS13B):c.8104A>T (p.Ile2702Phe) rs774565889 0.00015
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
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.8750C>T (p.Ser2917Leu) rs139732310 0.00013
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00012
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_152564.5(VPS13B):c.4549C>T (p.Arg1517Cys) rs375652507 0.00012
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.3088C>T (p.Arg1030Cys) rs374072699 0.00010
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) rs374124369 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_152564.5(VPS13B):c.560G>A (p.Arg187His) rs150941426 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys) rs180177372 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670 0.00006
NM_152564.5(VPS13B):c.367C>T (p.Arg123Trp) rs551933357 0.00006
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 0.00006
NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser) rs201363767 0.00006
NM_152564.5(VPS13B):c.7623T>A (p.Ser2541Arg) rs754632431 0.00006
NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr) rs189689493 0.00006
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser) rs764775015 0.00005
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu) rs183874686 0.00005
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser) rs368357351 0.00005
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr) rs149659649 0.00004
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) rs369891888 0.00004
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser) rs370336663 0.00004
NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe) rs61754112 0.00004
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly) rs1288339042 0.00004
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile) rs529286193 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys) rs774677234 0.00004
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) rs374298481 0.00004
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp) rs781460252 0.00004
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) rs750125340 0.00004
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys) rs371325199 0.00004
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile) rs750693109 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_152564.5(VPS13B):c.11086C>T (p.Arg3696Trp) rs147891367 0.00003
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr) rs768721417 0.00003
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 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.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) rs1226670439 0.00003
NM_152564.5(VPS13B):c.8710G>A (p.Val2904Ile) rs750349908 0.00003
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met) rs745866775 0.00002
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn) rs748727467 0.00002
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) rs549702100 0.00002
NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu) rs576973103 0.00002
NM_152564.5(VPS13B):c.3673C>G (p.Leu1225Val) rs1343599639 0.00002
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln) rs751699219 0.00002
NM_152564.5(VPS13B):c.5235A>C (p.Glu1745Asp) rs751179813 0.00002
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys) rs751912986 0.00002
NM_152564.5(VPS13B):c.825T>G (p.Ile275Met) rs769413380 0.00002
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu) rs760166376 0.00002
NM_152564.5(VPS13B):c.9917T>C (p.Ile3306Thr) rs139575184 0.00002
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val) rs398124325 0.00001
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His) rs773013716 0.00001
NM_152564.5(VPS13B):c.10681C>T (p.Arg3561Trp) rs200232124 0.00001
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) rs116951775 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp) rs772640414 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) rs529932207 0.00001
NM_152564.5(VPS13B):c.1229G>A (p.Ser410Asn) rs1465978289 0.00001
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr) rs1431957435 0.00001
NM_152564.5(VPS13B):c.147+3A>G rs772550162 0.00001
NM_152564.5(VPS13B):c.1586G>A (p.Gly529Glu) rs750429731 0.00001
NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala) rs753616467 0.00001
NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly) rs1294611505 0.00001
NM_152564.5(VPS13B):c.2383A>G (p.Asn795Asp) rs781012935 0.00001
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530 0.00001
NM_152564.5(VPS13B):c.2765C>T (p.Pro922Leu) rs1378379268 0.00001
NM_152564.5(VPS13B):c.3271A>G (p.Ile1091Val) rs780930460 0.00001
NM_152564.5(VPS13B):c.3769G>C (p.Ala1257Pro) rs1437011084 0.00001
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser) rs757950339 0.00001
NM_152564.5(VPS13B):c.4379C>T (p.Ser1460Phe) rs763285164 0.00001
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr) rs750053756 0.00001
NM_152564.5(VPS13B):c.4841C>A (p.Ala1614Glu) rs1002672196 0.00001
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr) rs200878381 0.00001
NM_152564.5(VPS13B):c.5249A>G (p.Asp1750Gly) rs767031340 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val) rs200711677 0.00001
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn) rs1056435586 0.00001
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile) rs766003681 0.00001
NM_152564.5(VPS13B):c.6527G>A (p.Ser2176Asn) rs767664311 0.00001
NM_152564.5(VPS13B):c.7262C>G (p.Ser2421Cys) rs1016168403 0.00001
NM_152564.5(VPS13B):c.7519A>G (p.Met2507Val) rs1467331063 0.00001
NM_152564.5(VPS13B):c.7945T>G (p.Leu2649Val) rs533426135 0.00001
NM_152564.5(VPS13B):c.7999G>A (p.Val2667Met) rs1250056053 0.00001
NM_152564.5(VPS13B):c.8023A>G (p.Arg2675Gly) rs770879393 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00001
NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val) rs1465869942 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) rs1272294316 0.00001
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr) rs1305759367 0.00001
NM_152564.5(VPS13B):c.9475A>G (p.Ile3159Val) rs905882677 0.00001
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) rs772361332 0.00001
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln) rs769856598 0.00001
NM_017890.5(VPS13B):c.4166A>G (p.Glu1389Gly)
NM_017890.5(VPS13B):c.4172G>A (p.Cys1391Tyr)
NM_152564.5(VPS13B):c.-2A>G
NM_152564.5(VPS13B):c.10055C>T (p.Thr3352Ile)
NM_152564.5(VPS13B):c.10133C>T (p.Thr3378Ile)
NM_152564.5(VPS13B):c.10190G>C (p.Cys3397Ser)
NM_152564.5(VPS13B):c.10307A>C (p.Lys3436Thr)
NM_152564.5(VPS13B):c.10382G>A (p.Ser3461Asn)
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu) rs781420614
NM_152564.5(VPS13B):c.10556T>C (p.Leu3519Ser) rs1563510051
NM_152564.5(VPS13B):c.10585T>G (p.Leu3529Val)
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu)
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr)
NM_152564.5(VPS13B):c.10670C>T (p.Pro3557Leu)
NM_152564.5(VPS13B):c.10720A>C (p.Ile3574Leu)
NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr) rs779069069
NM_152564.5(VPS13B):c.10778T>G (p.Val3593Gly)
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly)
NM_152564.5(VPS13B):c.10961A>G (p.Tyr3654Cys)
NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln) rs750753561
NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro)
NM_152564.5(VPS13B):c.11463C>G (p.Asp3821Glu)
NM_152564.5(VPS13B):c.11495+4A>G rs1563519738
NM_152564.5(VPS13B):c.11500A>G (p.Met3834Val)
NM_152564.5(VPS13B):c.11581G>A (p.Gly3861Arg)
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11644C>G (p.Gln3882Glu)
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11773G>C (p.Glu3925Gln)
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys)
NM_152564.5(VPS13B):c.11925T>G (p.His3975Gln)
NM_152564.5(VPS13B):c.11934G>C (p.Gln3978His) rs1012733827
NM_152564.5(VPS13B):c.1327T>G (p.Phe443Val)
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu)
NM_152564.5(VPS13B):c.1436T>A (p.Phe479Tyr)
NM_152564.5(VPS13B):c.1558C>G (p.His520Asp)
NM_152564.5(VPS13B):c.1711_1713del (p.Glu571del)
NM_152564.5(VPS13B):c.2006G>A (p.Gly669Glu)
NM_152564.5(VPS13B):c.2033A>G (p.Asn678Ser) rs751669595
NM_152564.5(VPS13B):c.2035A>G (p.Thr679Ala) rs755151137
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg) rs372585253
NM_152564.5(VPS13B):c.2078T>C (p.Ile693Thr)
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg)
NM_152564.5(VPS13B):c.2431A>G (p.Ile811Val) rs370570714
NM_152564.5(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_152564.5(VPS13B):c.2987A>T (p.Asp996Val)
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met)
NM_152564.5(VPS13B):c.3082+5G>A
NM_152564.5(VPS13B):c.3137G>T (p.Cys1046Phe)
NM_152564.5(VPS13B):c.3202A>C (p.Thr1068Pro)
NM_152564.5(VPS13B):c.3211-3T>C
NM_152564.5(VPS13B):c.3249T>A (p.Asp1083Glu) rs1196083061
NM_152564.5(VPS13B):c.3249T>G (p.Asp1083Glu) rs1196083061
NM_152564.5(VPS13B):c.3307T>C (p.Trp1103Arg)
NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_152564.5(VPS13B):c.3538G>A (p.Gly1180Ser) rs995313030
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924
NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser) rs527263178
NM_152564.5(VPS13B):c.3829A>G (p.Ser1277Gly)
NM_152564.5(VPS13B):c.3994A>G (p.Lys1332Glu)
NM_152564.5(VPS13B):c.4042+5A>G
NM_152564.5(VPS13B):c.4111G>C (p.Val1371Leu)
NM_152564.5(VPS13B):c.4121A>C (p.Lys1374Thr)
NM_152564.5(VPS13B):c.4224+620_4224+622del
NM_152564.5(VPS13B):c.4294G>A (p.Val1432Ile)
NM_152564.5(VPS13B):c.4348C>G (p.His1450Asp)
NM_152564.5(VPS13B):c.4379C>G (p.Ser1460Cys)
NM_152564.5(VPS13B):c.4465A>G (p.Ile1489Val)
NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His)
NM_152564.5(VPS13B):c.4946G>A (p.Ser1649Asn)
NM_152564.5(VPS13B):c.4947C>A (p.Ser1649Arg)
NM_152564.5(VPS13B):c.5076+5G>C
NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val) rs1825837144
NM_152564.5(VPS13B):c.5212G>C (p.Ala1738Pro) rs572817378
NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala) rs1426875703
NM_152564.5(VPS13B):c.5312T>C (p.Ile1771Thr)
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe) rs547179338
NM_152564.5(VPS13B):c.5486T>A (p.Met1829Lys)
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly) rs1829392467
NM_152564.5(VPS13B):c.5498A>G (p.Lys1833Arg)
NM_152564.5(VPS13B):c.572A>G (p.Asp191Gly)
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.5747C>G (p.Pro1916Arg)
NM_152564.5(VPS13B):c.5775G>C (p.Gln1925His)
NM_152564.5(VPS13B):c.5968C>G (p.Pro1990Ala)
NM_152564.5(VPS13B):c.5978T>C (p.Ile1993Thr)
NM_152564.5(VPS13B):c.5993G>A (p.Gly1998Asp)
NM_152564.5(VPS13B):c.6091A>G (p.Ser2031Gly)
NM_152564.5(VPS13B):c.6154G>A (p.Ala2052Thr)
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His) rs747116389
NM_152564.5(VPS13B):c.6412C>T (p.Leu2138Phe)
NM_152564.5(VPS13B):c.6457A>T (p.Ile2153Leu)
NM_152564.5(VPS13B):c.6493G>A (p.Asp2165Asn)
NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg)
NM_152564.5(VPS13B):c.7040A>G (p.Asp2347Gly) rs1563881705
NM_152564.5(VPS13B):c.7051-3dup
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg)
NM_152564.5(VPS13B):c.7145A>T (p.Gln2382Leu)
NM_152564.5(VPS13B):c.7193C>T (p.Ser2398Leu)
NM_152564.5(VPS13B):c.7195G>A (p.Asp2399Asn) rs1563907935
NM_152564.5(VPS13B):c.725A>T (p.Tyr242Phe)
NM_152564.5(VPS13B):c.73G>A (p.Asp25Asn)
NM_152564.5(VPS13B):c.7490A>T (p.Tyr2497Phe)
NM_152564.5(VPS13B):c.7779+5G>T rs1454252779
NM_152564.5(VPS13B):c.7896T>A (p.Ser2632Arg) rs1563916146
NM_152564.5(VPS13B):c.7902C>A (p.His2634Gln)
NM_152564.5(VPS13B):c.794C>G (p.Ser265Cys)
NM_152564.5(VPS13B):c.8050G>T (p.Ala2684Ser)
NM_152564.5(VPS13B):c.8062A>G (p.Ile2688Val)
NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe) rs984666923
NM_152564.5(VPS13B):c.8264A>C (p.Glu2755Ala)
NM_152564.5(VPS13B):c.8294G>A (p.Gly2765Glu)
NM_152564.5(VPS13B):c.8383A>G (p.Ile2795Val)
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.8449G>A (p.Val2817Met) rs1362379578
NM_152564.5(VPS13B):c.8491C>A (p.Pro2831Thr)
NM_152564.5(VPS13B):c.8529G>C (p.Leu2843Phe)
NM_152564.5(VPS13B):c.8584G>A (p.Glu2862Lys)
NM_152564.5(VPS13B):c.8630A>G (p.Tyr2877Cys)
NM_152564.5(VPS13B):c.8725G>A (p.Asp2909Asn)
NM_152564.5(VPS13B):c.8737G>T (p.Gly2913Trp)
NM_152564.5(VPS13B):c.8779A>G (p.Lys2927Glu)
NM_152564.5(VPS13B):c.8828G>T (p.Arg2943Leu)
NM_152564.5(VPS13B):c.908A>G (p.His303Arg)
NM_152564.5(VPS13B):c.9148G>A (p.Glu3050Lys)
NM_152564.5(VPS13B):c.9210G>T (p.Met3070Ile)
NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly) rs1563492523
NM_152564.5(VPS13B):c.9251C>G (p.Thr3084Ser)
NM_152564.5(VPS13B):c.9253A>G (p.Thr3085Ala)
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr) rs748030120
NM_152564.5(VPS13B):c.9355A>G (p.Thr3119Ala)
NM_152564.5(VPS13B):c.9361A>G (p.Ser3121Gly)
NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr) rs1815134599
NM_152564.5(VPS13B):c.9503G>T (p.Gly3168Val)
NM_152564.5(VPS13B):c.9519G>T (p.Gln3173His)
NM_152564.5(VPS13B):c.9521G>T (p.Cys3174Phe)
NM_152564.5(VPS13B):c.9615-3C>T
NM_152564.5(VPS13B):c.973C>T (p.Pro325Ser)
NM_152564.5(VPS13B):c.9808T>C (p.Tyr3270His)
NM_152564.5(VPS13B):c.9827A>G (p.Tyr3276Cys)
NM_152564.5(VPS13B):c.9942+4A>G rs772319548
NM_152564.5(VPS13B):c.9959G>T (p.Gly3320Val) rs1563506534

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