ClinVar Miner

List of variants in gene VPS13B reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
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.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.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.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_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
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.3211-11T>C rs77129176 0.00050
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.*431TTA[1] rs10542428
NM_152564.5(VPS13B):c.*700GAT[1] rs60078732
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532

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