ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_017890.4(VPS13B):c.11162G>A (p.Arg3721Gln) rs757726642
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.1594C>T (p.Arg532Trp) rs369930405
NM_017890.4(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_017890.4(VPS13B):c.2617A>G (p.Met873Val)
NM_017890.4(VPS13B):c.2764C>T (p.Pro922Ser) rs371120818
NM_017890.4(VPS13B):c.2816A>G (p.His939Arg)
NM_017890.4(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_017890.4(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278
NM_017890.4(VPS13B):c.4832A>G (p.Asn1611Ser) rs147342579
NM_017890.4(VPS13B):c.5025-9A>G rs373474658
NM_017890.4(VPS13B):c.5168G>T (p.Gly1723Val) rs368362777
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.7654G>A (p.Ala2552Thr)
NM_017890.4(VPS13B):c.7735G>C (p.Val2579Leu) rs202226215
NM_017890.4(VPS13B):c.7744G>A (p.Asp2582Asn)
NM_017890.4(VPS13B):c.7987T>C (p.Tyr2663His) rs761563766
NM_017890.4(VPS13B):c.8234T>C (p.Val2745Ala) rs369898130
NM_017890.4(VPS13B):c.8755A>G (p.Ile2919Val)
NM_017890.4(VPS13B):c.8833C>T (p.Pro2945Ser) rs1554567542
NM_017890.4(VPS13B):c.983A>G (p.His328Arg) rs181625846

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