ClinVar Miner

List of variants in gene VPS13B reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 80
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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.1627A>G (p.Thr543Ala) rs372625091
NM_015243.2(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568
NM_015243.2(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_015243.2(VPS13B):c.1754G>A (p.Arg585His) rs773472945
NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
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.2275G>C (p.Val759Leu) rs140848350
NM_015243.2(VPS13B):c.2356A>G (p.Ile786Val) rs202052403
NM_015243.2(VPS13B):c.292-1G>A rs1057520768
NM_015243.2(VPS13B):c.560G>A (p.Arg187His) rs150941426
NM_015243.2(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_015243.2(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10624A>G (p.Lys3542Glu) rs143187571
NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter) rs1057520769
NM_017890.4(VPS13B):c.10830C>T (p.Asp3610=) rs145950999
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
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.11334del (p.Thr3780fs) rs1064795251
NM_017890.4(VPS13B):c.11468-2A>C rs1554588038
NM_017890.4(VPS13B):c.11571-2A>G rs1554588353
NM_017890.4(VPS13B):c.11695_11698del (p.Ser3901fs) rs386834066
NM_017890.4(VPS13B):c.11777_11780del (p.Leu3926fs) rs1161589003
NM_017890.4(VPS13B):c.11906_11916delinsG (p.Pro3969fs) rs786204456
NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs) rs180177374
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2788C>T (p.Gln930Ter) rs372949456
NM_017890.4(VPS13B):c.2880A>G (p.Leu960=) rs760792770
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
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.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.4158-18C>T rs182492131
NM_017890.4(VPS13B):c.4197T>C (p.Gly1399=) rs149796549
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.4748T>A (p.Ile1583Asn) rs138417551
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5435G>T (p.Ser1812Ile) rs1085307957
NM_017890.4(VPS13B):c.5753_5754del (p.Leu1918fs) rs886041586
NM_017890.4(VPS13B):c.5878T>G (p.Ser1960Ala) rs138930771
NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter) rs180177365
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
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.7123C>T (p.Gln2375Ter) rs767858119
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.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) rs144350008
NM_017890.4(VPS13B):c.8014C>T (p.Gln2672Ter) rs753282248
NM_017890.4(VPS13B):c.8173-1G>C rs1554565484
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.8868-12T>A rs189516672
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9405+1G>C rs756013171
NM_017890.4(VPS13B):c.9405+2T>C rs1554570388
NM_017890.4(VPS13B):c.9709C>T (p.Gln3237Ter) rs1563499381
NM_017890.4(VPS13B):c.9793dup (p.Met3265fs) rs886041185
NM_181661.2(VPS13B):c.1239T>G (p.Tyr413Ter) rs7460625

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