ClinVar Miner

List of variants in gene VPS13B reported by Clinical Genetics, Academic Medical Center

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Gene type:
ClinVar version:
Total variants: 38
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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 0.00445
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
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.9330+9A>G rs184381851 0.00261
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00228
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
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.1832G>A (p.Arg611Lys) rs61754109 0.00121
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00115
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00104
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.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00070
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00066
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00058
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.8171A>G (p.Tyr2724Cys) rs138453594 0.00050
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.2356A>G (p.Ile786Val) rs202052403 0.00029
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00018
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=) rs766373133 0.00011
NM_152564.5(VPS13B):c.1303-9G>A rs370251445 0.00006
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=) rs755448442 0.00002
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=) rs749637946 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.10904del (p.Pro3635fs) rs2130933492

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