ClinVar Miner

List of variants in gene VPS13B reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_015243.2(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_015243.2(VPS13B):c.1336C>T (p.Gln446Ter) rs1554634138
NM_015243.2(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_015243.2(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_015243.2(VPS13B):c.292-1G>A rs1057520768
NM_015243.2(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter) rs1057520769
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11199_11200delinsT (p.Asn3734fs) rs1064793747
NM_017890.4(VPS13B):c.11246_11249dup (p.Leu3751fs) rs1057518228
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11468-2A>C rs1554588038
NM_017890.4(VPS13B):c.11571-2A>G rs1554588353
NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs) rs180177374
NM_017890.4(VPS13B):c.2788C>T (p.Gln930Ter) rs372949456
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5753_5754del (p.Leu1918fs) rs886041586
NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter) rs180177365
NM_017890.4(VPS13B):c.5984-2A>T rs1554892004
NM_017890.4(VPS13B):c.5996_5997CT[1] (p.Leu2000fs) rs886041323
NM_017890.4(VPS13B):c.6002del (p.Pro2001fs) rs755125969
NM_017890.4(VPS13B):c.6030G>A (p.Trp2010Ter) rs1554892040
NM_017890.4(VPS13B):c.6200T>A (p.Leu2067Ter) rs371364257
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.6384_6385del (p.Ser2129fs) rs1064796925
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) rs146960401
NM_017890.4(VPS13B):c.7292del (p.Asn2431fs) rs886041184
NM_017890.4(VPS13B):c.7522C>T (p.Gln2508Ter) rs980463746
NM_017890.4(VPS13B):c.7623_7626TGTC[1] (p.Cys2543fs) rs886041587
NM_017890.4(VPS13B):c.8014C>T (p.Gln2672Ter) rs753282248
NM_017890.4(VPS13B):c.8254C>T (p.Gln2752Ter) rs886041678
NM_017890.4(VPS13B):c.8362del (p.Ala2788fs) rs1554565645
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.9405+1G>C rs756013171
NM_017890.4(VPS13B):c.9709C>T (p.Gln3237Ter) rs1563499381
NM_017890.4(VPS13B):c.9793dup (p.Met3265fs) rs886041185

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