ClinVar Miner

List of variants in gene VPS13B reported by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_017890.4(VPS13B):c.10136+24G>A rs34513504
NM_017890.4(VPS13B):c.10140G>T (p.Ala3380=) rs61753726
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.2934+14A>T rs187151724
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.4821-14C>T rs112780006
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.9405+10T>A rs75904081
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_181661.2(VPS13B):c.1239T>G (p.Tyr413Ter) rs7460625

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