ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
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.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
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.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
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.2472C>T (p.Ser824=) rs766373133 0.00011
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.10626G>A (p.Val3542=) rs139227281 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 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.9135G>A (p.Ala3045=) rs574238919 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
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.234A>G (p.Pro78=) rs372597619 0.00001
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=) rs192509060 0.00001
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) rs1383239374 0.00001
NM_152564.5(VPS13B):c.*264_*265dup
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=)
NM_152564.5(VPS13B):c.11763G>A (p.Glu3921=)
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)
NM_152564.5(VPS13B):c.2515+16591C>G
NM_152564.5(VPS13B):c.285G>A (p.Gly95=) rs2132222228
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=)
NM_152564.5(VPS13B):c.420G>A (p.Val140=) rs1379154568
NM_152564.5(VPS13B):c.6G>T (p.Leu2=) rs752072948
NM_152564.5(VPS13B):c.8134T>C (p.Leu2712=)
NM_152564.5(VPS13B):c.8208T>C (p.His2736=)
NM_152564.5(VPS13B):c.8457C>T (p.Ser2819=)
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=) rs765352584
NM_152564.5(VPS13B):c.9796C>T (p.His3266Tyr) rs1815349470

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