ClinVar Miner

List of variants in gene VPS13B reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
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.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.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.3116T>C (p.Met1039Thr) rs140015545 0.00144
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.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
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.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.711T>C (p.Arg237=) rs140808736 0.00047
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
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.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
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.11338G>T (p.Val3780Leu) rs138565077 0.00021
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.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.2748A>G (p.Pro916=) rs144830924 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=) rs766373133 0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser) rs778256097 0.00010
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=) rs201517365 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=) rs139227281 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His) rs773472945 0.00005
NM_152564.5(VPS13B):c.10809G>A (p.Ala3603=) rs768029540 0.00004
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) rs765163542 0.00004
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly) rs368595026 0.00004
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=) rs574238919 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_017890.5(VPS13B):c.4180T>C (p.Leu1394=) rs1246500568 0.00001
NM_152564.5(VPS13B):c.10152T>G (p.Ala3384=) rs374129601 0.00001
NM_152564.5(VPS13B):c.10473C>G (p.Leu3491=) rs1302374134 0.00001
NM_152564.5(VPS13B):c.11577T>C (p.His3859=) rs771158927 0.00001
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) rs368092348 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.234A>G (p.Pro78=) rs372597619 0.00001
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530 0.00001
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=) rs192509060 0.00001
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His) rs757707584 0.00001
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val) rs760057249 0.00001
NM_152564.5(VPS13B):c.502G>A (p.Val168Ile) rs750201290 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.78A>G (p.Leu26=) rs745980143 0.00001
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725 0.00001
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) rs1383239374 0.00001
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
GRCh37/hg19 8q22.2(chr8:100115181-100115348)x1
GRCh37/hg19 8q22.2(chr8:100286427-100287483)x1
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
GRCh37/hg19 8q22.2(chr8:100673582-100673719)x1
NM_152564.5(VPS13B):c.*264_*265dup
NM_152564.5(VPS13B):c.1002T>G (p.Tyr334Ter) rs1057519182
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter)
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) rs758842658
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=)
NM_152564.5(VPS13B):c.11093T>C (p.Met3698Thr) rs1816852231
NM_152564.5(VPS13B):c.11763G>A (p.Glu3921=)
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)
NM_152564.5(VPS13B):c.1948T>C (p.Cys650Arg) rs1445340623
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla) rs1813688418
NM_152564.5(VPS13B):c.2515+16591C>G
NM_152564.5(VPS13B):c.285G>A (p.Gly95=) rs2132222228
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=)
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.420G>A (p.Val140=) rs1379154568
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) rs1057519183
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs) rs1830219226
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.6G>T (p.Leu2=) rs752072948
NM_152564.5(VPS13B):c.710G>C (p.Arg237Pro)
NM_152564.5(VPS13B):c.7304C>T (p.Ala2435Val)
NM_152564.5(VPS13B):c.7446_7453dup (p.Phe2485fs) rs2130678319
NM_152564.5(VPS13B):c.7552_7555del (p.Cys2518fs) rs886041587
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.8134T>C (p.Leu2712=)
NM_152564.5(VPS13B):c.8208T>C (p.His2736=)
NM_152564.5(VPS13B):c.8252T>C (p.Leu2751Pro) rs1563488848
NM_152564.5(VPS13B):c.8457C>T (p.Ser2819=)
NM_152564.5(VPS13B):c.8512_8516del (p.Lys2838fs) rs1814195897
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=) rs765352584
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val)
NM_152564.5(VPS13B):c.9796C>T (p.His3266Tyr) rs1815349470

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