ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
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.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.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.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
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.7647C>T (p.Phe2549=) rs112634620 0.00066
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.1463C>T (p.Thr488Met) rs150783688 0.00050
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.8793-12T>A rs189516672 0.00042
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00036
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
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.11114A>T (p.Glu3705Val) rs376308074 0.00030
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
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.6658-13T>A rs369117364 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.11656G>A (p.Val3886Ile) rs141793014 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.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.11474A>G (p.Asn3825Ser) rs199741560 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
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.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
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.9100G>A (p.Gly3034Ser) rs778256097 0.00010
NM_152564.5(VPS13B):c.1464G>A (p.Thr488=) rs727504217 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_152564.5(VPS13B):c.7950C>T (p.His2650=) rs61754503 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.560G>A (p.Arg187His) rs150941426 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.4622C>T (p.Pro1541Leu) rs552843068 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe) rs759427770 0.00006
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu) rs143187571 0.00006
NM_152564.5(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216 0.00006
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) rs771022240 0.00006
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile) rs200519753 0.00006
NM_152564.5(VPS13B):c.2051C>T (p.Ser684Phe) rs367999029 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val) rs745651556 0.00006
NM_152564.5(VPS13B):c.3559G>A (p.Val1187Ile) rs151247807 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.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His) rs773472945 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe) rs763052877 0.00005
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser) rs141275433 0.00005
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) rs369891888 0.00004
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) rs765163542 0.00004
NM_152564.5(VPS13B):c.1594C>T (p.Arg532Trp) rs369930405 0.00004
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091 0.00004
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly) rs368595026 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly) rs1288339042 0.00004
NM_152564.5(VPS13B):c.4950-9A>G rs373474658 0.00004
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) rs755227174 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) rs369932118 0.00004
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp) rs781460252 0.00004
NM_152564.5(VPS13B):c.8713A>C (p.Asn2905His) rs770344131 0.00004
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu) rs545957190 0.00003
NM_152564.5(VPS13B):c.11745+5G>A rs398124328 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00003
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208 0.00003
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=) rs886043216 0.00003
NM_152564.5(VPS13B):c.8441G>A (p.Arg2814Gln) rs148333124 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile) rs367609176 0.00002
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) rs549702100 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly) rs1289522615 0.00002
NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe) rs200774003 0.00002
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln) rs138148013 0.00002
NM_152564.5(VPS13B):c.6887T>C (p.Val2296Ala) rs727504218 0.00002
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr) rs369062407 0.00002
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His) rs398124338 0.00002
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup) rs747778859 0.00002
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) rs368041601 0.00001
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val) rs398124325 0.00001
NM_152564.5(VPS13B):c.10522G>A (p.Val3508Met) rs142957181 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 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.11745+4C>T rs751045565 0.00001
NM_152564.5(VPS13B):c.11906A>C (p.His3969Pro) rs902783600 0.00001
NM_152564.5(VPS13B):c.1567A>G (p.Thr523Ala) rs146659631 0.00001
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332 0.00001
NM_152564.5(VPS13B):c.3113C>T (p.Ala1038Val) rs1169113054 0.00001
NM_152564.5(VPS13B):c.3255G>A (p.Leu1085=) rs371674854 0.00001
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met) rs758040462 0.00001
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His) rs757707584 0.00001
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) rs751715193 0.00001
NM_152564.5(VPS13B):c.4286C>A (p.Thr1429Lys) rs1232811849 0.00001
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val) rs760057249 0.00001
NM_152564.5(VPS13B):c.4777C>A (p.Pro1593Thr) rs954564707 0.00001
NM_152564.5(VPS13B):c.502G>A (p.Val168Ile) rs750201290 0.00001
NM_152564.5(VPS13B):c.5087T>C (p.Val1696Ala) rs878852995 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.5902T>C (p.Cys1968Arg) rs1422533086 0.00001
NM_152564.5(VPS13B):c.6021G>T (p.Gln2007His) rs398124335 0.00001
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn) rs1056435586 0.00001
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys) rs367838871 0.00001
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro) rs1366756885 0.00001
NM_152564.5(VPS13B):c.6487A>G (p.Ile2163Val) rs794727599 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile) rs549157416 0.00001
NM_152564.5(VPS13B):c.78A>G (p.Leu26=) rs745980143 0.00001
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His) rs555559192 0.00001
NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser) rs762186948 0.00001
NM_152564.5(VPS13B):c.8045G>A (p.Arg2682Gln) rs941818698 0.00001
NM_152564.5(VPS13B):c.8173A>G (p.Ile2725Val) rs201127443 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) rs1272294316 0.00001
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=) rs773387480 0.00001
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) rs376291996 0.00001
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) rs772361332 0.00001
NM_152564.5(VPS13B):c.9646G>A (p.Gly3216Arg) rs758775003 0.00001
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln) rs769856598 0.00001
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys) rs756531043 0.00001
GRCh37/hg19 8q22.2(chr8:100032327-100217652)x1
GRCh37/hg19 8q22.2(chr8:100032341-100088337)x1
GRCh37/hg19 8q22.2(chr8:100115181-100115348)x1
GRCh37/hg19 8q22.2(chr8:100121961-100331982)x1
GRCh37/hg19 8q22.2(chr8:100251329-100422704)x1
GRCh37/hg19 8q22.2(chr8:100276485-100494359)x1
GRCh37/hg19 8q22.2(chr8:100356422-100777020)x1
GRCh37/hg19 8q22.2(chr8:99975705-100209173)x3
NM_017890.5(VPS13B):c.4200C>T (p.Val1400=) rs398124333
NM_152564.5(VPS13B):c.10078G>T (p.Val3360Phe) rs1563509454
NM_152564.5(VPS13B):c.10132A>G (p.Thr3378Ala)
NM_152564.5(VPS13B):c.10478A>G (p.Asp3493Gly) rs587780497
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp) rs1588786822
NM_152564.5(VPS13B):c.10753G>A (p.Asp3585Asn) rs1311421082
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194
NM_152564.5(VPS13B):c.11078G>C (p.Ser3693Thr) rs398124327
NM_152564.5(VPS13B):c.11093T>C (p.Met3698Thr) rs1816852231
NM_152564.5(VPS13B):c.11167G>C (p.Gly3723Arg) rs1816856108
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=)
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11884C>T (p.Pro3962Ser) rs201483764
NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His) rs531619892
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.1580T>C (p.Ile527Thr) rs1810086193
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val)
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr) rs1027919525
NM_152564.5(VPS13B):c.1948T>C (p.Cys650Arg) rs1445340623
NM_152564.5(VPS13B):c.2014-15A>G rs1811373750
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.2224G>A (p.Ala742Thr)
NM_152564.5(VPS13B):c.2431A>C (p.Ile811Leu) rs370570714
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla) rs1813688418
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met)
NM_152564.5(VPS13B):c.2569G>C (p.Glu857Gln) rs886042520
NM_152564.5(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_152564.5(VPS13B):c.2830G>A (p.Val944Ile) rs753607562
NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val) rs770406179
NM_152564.5(VPS13B):c.2867_2869del (p.Ile956_Asp957delinsAsn) rs2133295202
NM_152564.5(VPS13B):c.3148G>A (p.Glu1050Lys) rs794727363
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_152564.5(VPS13B):c.3515C>T (p.Thr1172Ile) rs1306881471
NM_152564.5(VPS13B):c.3577C>G (p.Leu1193Val)
NM_152564.5(VPS13B):c.3595A>G (p.Thr1199Ala) rs1563746444
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_152564.5(VPS13B):c.4280C>T (p.Thr1427Ile) rs2133637221
NM_152564.5(VPS13B):c.4290A>T (p.Lys1430Asn) rs2133637258
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys)
NM_152564.5(VPS13B):c.437G>A (p.Arg146Gln) rs1230213879
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu)
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg) rs1821780332
NM_152564.5(VPS13B):c.5135T>C (p.Phe1712Ser) rs1239050787
NM_152564.5(VPS13B):c.524C>G (p.Ser175Cys) rs398124334
NM_152564.5(VPS13B):c.5329A>C (p.Lys1777Gln) rs1204705363
NM_152564.5(VPS13B):c.5436T>G (p.Phe1812Leu) rs2133931748
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) rs1057519183
NM_152564.5(VPS13B):c.5728A>G (p.Ile1910Val)
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.581-9dup rs60664170
NM_152564.5(VPS13B):c.5864T>C (p.Phe1955Ser)
NM_152564.5(VPS13B):c.6020A>G (p.Gln2007Arg) rs1729163795
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr)
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His) rs747116389
NM_152564.5(VPS13B):c.6266G>T (p.Gly2089Val) rs398124336
NM_152564.5(VPS13B):c.634C>T (p.Leu212Phe)
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=) rs1046756662
NM_152564.5(VPS13B):c.6931A>T (p.Met2311Leu) rs797046095
NM_152564.5(VPS13B):c.710G>C (p.Arg237Pro)
NM_152564.5(VPS13B):c.7145A>C (p.Gln2382Pro) rs780959088
NM_152564.5(VPS13B):c.7304C>T (p.Ala2435Val)
NM_152564.5(VPS13B):c.7377G>C (p.Gln2459His)
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg)
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile) rs1812159282
NM_152564.5(VPS13B):c.7892C>T (p.Ala2631Val) rs768459862
NM_152564.5(VPS13B):c.8159T>C (p.Val2720Ala) rs369898130
NM_152564.5(VPS13B):c.8185G>A (p.Gly2729Arg) rs794727679
NM_152564.5(VPS13B):c.8252T>C (p.Leu2751Pro) rs1563488848
NM_152564.5(VPS13B):c.8588C>G (p.Pro2863Arg)
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.9183+6A>G rs369495448
NM_152564.5(VPS13B):c.9247A>C (p.Lys3083Gln)
NM_152564.5(VPS13B):c.9331-1delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT rs2130857700
NM_152564.5(VPS13B):c.9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-5_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9350G>A (p.Ser3117Asn)
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) rs781004616
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val)
NM_152564.5(VPS13B):c.984T>A (p.His328Gln)
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734

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