ClinVar Miner

List of variants in gene VPS13B reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.6047-257G>A rs4735634 0.04243
NM_152564.5(VPS13B):c.3666+152T>C rs78645786 0.03898
NM_152564.5(VPS13B):c.8098-312G>A rs116971935 0.02990
NM_152564.5(VPS13B):c.6046+210G>A rs1449790 0.02934
NM_152564.5(VPS13B):c.2824+83T>A rs186729358 0.02041
NM_152564.5(VPS13B):c.3211-152A>G rs77706283 0.01964
NM_152564.5(VPS13B):c.763-89C>A rs138515744 0.01527
NM_152564.5(VPS13B):c.10867+157C>G rs115753096 0.01179
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_152564.5(VPS13B):c.9183+197G>C rs11997610 0.01153
NM_152564.5(VPS13B):c.9743-47T>G rs78260251 0.01080
NM_152564.5(VPS13B):c.5077-241A>G rs116011290 0.01079
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_152564.5(VPS13B):c.3445+227A>G rs80150037 0.00948
NM_152564.5(VPS13B):c.2209-334G>A rs113889799 0.00915
NM_152564.5(VPS13B):c.938-164T>G rs112458271 0.00893
NM_152564.5(VPS13B):c.412+181G>A rs141308505 0.00827
NM_152564.5(VPS13B):c.11044+33C>A rs72676269 0.00818
NM_152564.5(VPS13B):c.5076+240G>A rs149130480 0.00813
NM_152564.5(VPS13B):c.2515+16258T>C rs147966059 0.00810
NM_152564.5(VPS13B):c.10868-56T>C rs117709551 0.00808
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_152564.5(VPS13B):c.9614+302G>A rs78692729 0.00701
NM_152564.5(VPS13B):c.291+277C>T rs190751801 0.00690
NM_152564.5(VPS13B):c.2650+259G>A rs191182682 0.00688
NM_152564.5(VPS13B):c.7779+102G>A rs151077038 0.00685
NM_152564.5(VPS13B):c.292-282C>A rs139188233 0.00662
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_152564.5(VPS13B):c.4950-90A>T rs116711715 0.00593
NM_152564.5(VPS13B):c.5077-311A>G rs138469023 0.00533
NM_152564.5(VPS13B):c.7430-240A>T rs572379512 0.00532
NM_152564.5(VPS13B):c.9615-321G>A rs77687953 0.00479
NM_152564.5(VPS13B):c.8362-188C>T rs116460739 0.00475
NM_152564.5(VPS13B):c.3083-81C>A rs140677395 0.00462
NM_152564.5(VPS13B):c.11393-249T>C rs74485065 0.00453
NM_152564.5(VPS13B):c.10867+96T>A rs527945139 0.00425
NM_152564.5(VPS13B):c.2825-263G>A rs149793635 0.00401
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.4225-199C>T rs79931505 0.00376
NM_152564.5(VPS13B):c.6658-94A>G rs114619467 0.00374
NM_152564.5(VPS13B):c.7050+11A>G rs114546856 0.00372
NM_152564.5(VPS13B):c.11745+164G>A rs114863937 0.00341
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_152564.5(VPS13B):c.4949+105T>G rs189692164 0.00301
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00113
NM_152564.5(VPS13B):c.1844-51G>A rs113413237 0.00112
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_152564.5(VPS13B):c.412+36A>G rs146475623 0.00101
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_152564.5(VPS13B):c.11495+6A>G rs116546060 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.2880A>G (p.Leu960=) rs760792770 0.00001
NM_152564.5(VPS13B):c.10061+94T>C
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.1843+293dup rs751722197
NM_152564.5(VPS13B):c.2013+59_2013+61del rs199769640
NM_152564.5(VPS13B):c.2333+303del rs201052260
NM_152564.5(VPS13B):c.2824+34G>T rs895295438
NM_152564.5(VPS13B):c.291+137_291+139del rs34774482
NM_152564.5(VPS13B):c.3666+77_3666+158dup rs2133511779
NM_152564.5(VPS13B):c.4042+116_4042+117insGTC rs751667230
NM_152564.5(VPS13B):c.4042+117_4042+120del
NM_152564.5(VPS13B):c.4042+124_4042+125insTTCC
NM_152564.5(VPS13B):c.4042+285C>T rs149905388
NM_152564.5(VPS13B):c.4042+39TCCC[11] rs554230536
NM_152564.5(VPS13B):c.412+340_412+341del rs56378823
NM_152564.5(VPS13B):c.4157+105A>G rs550251651
NM_152564.5(VPS13B):c.9330+222C>T rs61439510
NM_152564.5(VPS13B):c.9331-99_9331-98dup rs68156520

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