ClinVar Miner

List of variants reported as likely pathogenic for Cohen syndrome by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter) rs567092790 0.00001
NM_152564.5(VPS13B):c.3870+1G>T rs764225649 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10035dup (p.Gly3346fs)
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter) rs1014479884
NM_152564.5(VPS13B):c.1018_1045del (p.Glu340fs)
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter) rs2130972411
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11786del (p.Asn3929fs)
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11837del (p.Cys3946fs)
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter) rs2488758091
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter) rs2488758180
NM_152564.5(VPS13B):c.1297del (p.Val433fs)
NM_152564.5(VPS13B):c.1315G>T (p.Gly439Ter)
NM_152564.5(VPS13B):c.1490C>A (p.Ser497Ter)
NM_152564.5(VPS13B):c.1571del (p.Tyr524fs)
NM_152564.5(VPS13B):c.1703_1710delinsAAGTGAA (p.Thr568fs)
NM_152564.5(VPS13B):c.1843+1G>A rs1350917774
NM_152564.5(VPS13B):c.1900G>T (p.Glu634Ter)
NM_152564.5(VPS13B):c.2014-1G>T
NM_152564.5(VPS13B):c.2356dup (p.Ile786fs)
NM_152564.5(VPS13B):c.2690del (p.Gly897fs)
NM_152564.5(VPS13B):c.2759T>A (p.Leu920Ter)
NM_152564.5(VPS13B):c.2883T>A (p.Tyr961Ter)
NM_152564.5(VPS13B):c.2934+2T>C
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter) rs2490099465
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs) rs2490099762
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3587dup (p.Pro1197fs)
NM_152564.5(VPS13B):c.3975G>A (p.Trp1325Ter)
NM_152564.5(VPS13B):c.4096dup (p.Asp1366fs)
NM_152564.5(VPS13B):c.4108A>T (p.Lys1370Ter)
NM_152564.5(VPS13B):c.428del (p.Leu143fs)
NM_152564.5(VPS13B):c.4633+1G>A rs1337363590
NM_152564.5(VPS13B):c.4633+1G>C
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.5402C>A (p.Ser1801Ter)
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_152564.5(VPS13B):c.580+2T>C rs2488637752
NM_152564.5(VPS13B):c.5842C>T (p.Gln1948Ter)
NM_152564.5(VPS13B):c.5908+1G>A
NM_152564.5(VPS13B):c.6049del (p.Asp2017fs)
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs) rs2130179734
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6839del (p.Gly2280fs)
NM_152564.5(VPS13B):c.6866-1G>A
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter) rs2491774358
NM_152564.5(VPS13B):c.7154del (p.Asp2385fs)
NM_152564.5(VPS13B):c.7185dup (p.Val2396fs)
NM_152564.5(VPS13B):c.7195_7196dup (p.Asp2399fs)
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter) rs1230710158
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) rs1379711249
NM_152564.5(VPS13B):c.8575C>T (p.Gln2859Ter)
NM_152564.5(VPS13B):c.8622-1G>A
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8716C>T (p.Gln2906Ter)
NM_152564.5(VPS13B):c.9184-2A>G rs2492027408
NM_152564.5(VPS13B):c.9226C>T (p.Gln3076Ter)
NM_152564.5(VPS13B):c.9544A>T (p.Arg3182Ter)
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) rs1563499381
NM_152564.5(VPS13B):c.9791C>A (p.Ser3264Ter)
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.998T>A (p.Leu333Ter)

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