ClinVar Miner

List of variants in gene VPS13B reported as benign for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
NM_152564.5(VPS13B):c.3666+55T>C rs3134156 0.17268
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.9331-2A>T rs74485751 0.06492
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_152564.5(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.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.3413C>T (p.Pro1138Leu) rs35342235 0.00760
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.6977G>A (p.Arg2326Gln) rs61754113 0.00651
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.7050+11A>G rs114546856 0.00372
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.9330+9A>G rs184381851 0.00261
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00242
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.11619G>C (p.Val3873=) rs113454700 0.00194
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
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.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00113
NM_152564.5(VPS13B):c.11495+19G>A rs370575091 0.00097
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
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.2704A>G (p.Lys902Glu) rs149531438 0.00074
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.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
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.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 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.6072G>A (p.Lys2024=) rs142850229 0.00021
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=) rs201735478 0.00020
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 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.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu) rs779782582 0.00001
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 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.8661A>G (p.Ser2887=) rs199552885 0.00001
NM_152564.5(VPS13B):c.*431TTA[1] rs10542428
NM_152564.5(VPS13B):c.*700GAT[1] rs60078732
NM_152564.5(VPS13B):c.11496-7dup
NM_152564.5(VPS13B):c.11745+15del rs1450725730
NM_152564.5(VPS13B):c.11746-10dup
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.148-11del
NM_152564.5(VPS13B):c.2013+9del rs2132597306
NM_152564.5(VPS13B):c.2208+9del rs2132624713
NM_152564.5(VPS13B):c.2209-4T>G rs201309214
NM_152564.5(VPS13B):c.2824+97G>C rs7840337
NM_152564.5(VPS13B):c.2934+25dup rs770873113
NM_152564.5(VPS13B):c.3445+20dup
NM_152564.5(VPS13B):c.3667-14dup
NM_152564.5(VPS13B):c.413-12del
NM_152564.5(VPS13B):c.413-12dup
NM_152564.5(VPS13B):c.4633+22del rs756149542
NM_152564.5(VPS13B):c.4633+22dup rs756149542
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.5076+22del
NM_152564.5(VPS13B):c.5077-8del
NM_152564.5(VPS13B):c.5221-8dup rs2133931327
NM_152564.5(VPS13B):c.581-9del
NM_152564.5(VPS13B):c.581-9dup rs60664170
NM_152564.5(VPS13B):c.6046+17del
NM_152564.5(VPS13B):c.6454+19del rs772522395
NM_152564.5(VPS13B):c.6455-4del rs398124337
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.6455-5_6455-4dup
NM_152564.5(VPS13B):c.6658-13del
NM_152564.5(VPS13B):c.6658-13dup
NM_152564.5(VPS13B):c.6658-5dup
NM_152564.5(VPS13B):c.7051-13del
NM_152564.5(VPS13B):c.7429+14dup rs747441995
NM_152564.5(VPS13B):c.762+19dup rs770716174
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala)
NM_152564.5(VPS13B):c.7942-7dup
NM_152564.5(VPS13B):c.8446-5del rs760534492
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8792+24dup
NM_152564.5(VPS13B):c.8994+16del
NM_152564.5(VPS13B):c.9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331-99_9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs) rs757435621
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe) rs752763935
NM_152564.5(VPS13B):c.9742+13C>T rs112919682
NM_152564.5(VPS13B):c.9742+9dup

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