ClinVar Miner

List of variants in gene VPS13B reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00033
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu) rs755937467 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00011
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.709C>T (p.Arg237Cys) rs376296532 0.00010
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu) rs149017920 0.00009
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr) rs149659649 0.00004
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys) rs371325199 0.00004
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile) rs367609176 0.00002
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly) rs1289522615 0.00002
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup) rs747778859 0.00002
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) rs529932207 0.00001
NM_152564.5(VPS13B):c.3083-5C>G rs1427967091 0.00001
NM_152564.5(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 0.00001
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His) rs555559192 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) rs376291996 0.00001
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln) rs769856598 0.00001
NM_152564.5(VPS13B):c.10078G>T (p.Val3360Phe) rs1563509454
NM_152564.5(VPS13B):c.1831del (p.Arg611fs)
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.2224G>A (p.Ala742Thr) rs2488877347
NM_152564.5(VPS13B):c.2830G>A (p.Val944Ile) rs753607562
NM_152564.5(VPS13B):c.4280C>T (p.Thr1427Ile) rs2133637221
NM_152564.5(VPS13B):c.437G>A (p.Arg146Gln) rs1230213879
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg) rs1821780332
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.5864T>C (p.Phe1955Ser) rs768962852
NM_152564.5(VPS13B):c.6020A>G (p.Gln2007Arg) rs1729163795
NM_152564.5(VPS13B):c.634C>T (p.Leu212Phe) rs2488672090
NM_152564.5(VPS13B):c.6535C>G (p.Leu2179Val)

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