ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 13
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HGVS dbSNP
NM_015243.2(VPS13B):c.160C>T (p.Pro54Ser) rs1193369148
NM_015243.2(VPS13B):c.1652-9T>A rs375615155
NM_017890.4(VPS13B):c.10244C>T (p.Thr3415Ile) rs767783667
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.11960C>G (p.Pro3987Arg) rs531619892
NM_017890.4(VPS13B):c.3083-8G>A rs201973611
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=)
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.4329T>G (p.His1443Gln) rs201349007
NM_017890.4(VPS13B):c.7551A>G (p.Pro2517=) rs913138802
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.9500T>C (p.Met3167Thr)

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