ClinVar Miner

List of variants in gene VPS13B reported as pathogenic by OMIM

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Total variants: 16
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HGVS dbSNP
NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter) rs120074154
NM_017890.4(VPS13B):c.11119+2T>C rs587777382
NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152
NM_017890.4(VPS13B):c.3346_3347CT[1] (p.Cys1117fs) rs180177327
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) rs120074151
NM_017890.4(VPS13B):c.5983+2dupT rs587777381
NM_017890.4(VPS13B):c.6578T>G (p.Leu2193Arg) rs120074149
NM_017890.4(VPS13B):c.7051C>T (p.Arg2351Ter) rs120074150
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_017890.4(VPS13B):c.8459T>C (p.Ile2820Thr) rs120074155
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9406-1G>C rs386834119
VPS13B, 1-BP DEL, 11564A
VPS13B, EX46-50DEL
VPS13B, EX6-16DEL

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