ClinVar Miner

List of variants in gene VPS13B reported by OMIM

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NG_007098.2:g.(809539_810185)_(813218_815566)del
NG_007098.2:g.(94856_102832)_(161899_184610)del
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.11044+2T>C rs587777382
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg) rs120074149
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9331-1G>C rs386834119

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