ClinVar Miner

List of variants in gene VPS13B reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.2516-146T>C rs6987376 0.99726
NM_152564.5(VPS13B):c.2515+16235C>A rs9792362 0.76625
NM_152564.5(VPS13B):c.292-270A>C rs7461615 0.73862
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_152564.5(VPS13B):c.9614+204T>C rs11781938 0.39338
NM_152564.5(VPS13B):c.3666+289A>C rs3134157 0.28865
NM_152564.5(VPS13B):c.3210+311T>A rs3134187 0.26949
NM_152564.5(VPS13B):c.11392+211G>A rs12548344 0.24222
NM_152564.5(VPS13B):c.10062-266G>A rs7832488 0.23984
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_152564.5(VPS13B):c.1843+283T>C rs6468671 0.20865
NM_152564.5(VPS13B):c.3666+199A>G rs3105204 0.17942
NM_152564.5(VPS13B):c.3666+55T>C rs3134156 0.17268
NM_152564.5(VPS13B):c.2935-192_2935-191insTA rs139179566 0.17197
NM_152564.5(VPS13B):c.3210+184A>C rs3103704 0.16770
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_152564.5(VPS13B):c.8621+144G>A rs13260744 0.15013
NM_152564.5(VPS13B):c.147+112T>C rs12547849 0.14998
NM_152564.5(VPS13B):c.9615-331C>T rs35615286 0.13355
NM_152564.5(VPS13B):c.5909-161G>A rs1788156 0.13337
NM_152564.5(VPS13B):c.5908+279G>A rs16897528 0.13300
NM_152564.5(VPS13B):c.11746-296T>C rs10955222 0.12896
NM_152564.5(VPS13B):c.8621+178T>A rs2305290 0.12690
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_152564.5(VPS13B):c.2013+100G>T rs79506327 0.07746
NM_152564.5(VPS13B):c.4633+302G>A rs16897410 0.07246
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_152564.5(VPS13B):c.2825-252C>T rs11989337 0.06561
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_152564.5(VPS13B):c.2515+16235del rs201786882 0.05358
NM_152564.5(VPS13B):c.1206+254A>G rs77809423 0.05067
NM_152564.5(VPS13B):c.2934+290A>G rs79733089 0.05008
NM_152564.5(VPS13B):c.4633+53C>T rs117661187 0.03620
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_152564.5(VPS13B):c.5909-327T>A rs117526235 0.03342
NM_152564.5(VPS13B):c.2824+82_2824+83insA rs199722082 0.03116
NM_152564.5(VPS13B):c.10867+56G>A rs148960616 0.02595
NM_152564.5(VPS13B):c.4225-54T>A rs575517960 0.02411
NM_152564.5(VPS13B):c.3871-156G>A rs75213793 0.02246
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_152564.5(VPS13B):c.2824+84T>A rs541769726 0.01984
NM_152564.5(VPS13B):c.2824+86T>A rs561450730 0.01970
NM_152564.5(VPS13B):c.7247+247A>G rs73271381 0.01815
NM_152564.5(VPS13B):c.11496-146A>G rs76969502 0.01806
NM_152564.5(VPS13B):c.8445+47T>C rs16897743 0.01637
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.*250_*252dup rs71274940
NM_152564.5(VPS13B):c.*33_*34insGATT rs2130991117
NM_152564.5(VPS13B):c.*33_*36dup rs373852425
NM_152564.5(VPS13B):c.11044+58del rs10710929
NM_152564.5(VPS13B):c.11044+58dup rs10710929
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.1843+175G>T rs77732757
NM_152564.5(VPS13B):c.2013+60_2013+61del rs199769640
NM_152564.5(VPS13B):c.2013+61del rs199769640
NM_152564.5(VPS13B):c.2013+61dup rs199769640
NM_152564.5(VPS13B):c.2515+16525del rs59727162
NM_152564.5(VPS13B):c.2515+16841dup rs55729003
NM_152564.5(VPS13B):c.2650+232del rs5893486
NM_152564.5(VPS13B):c.2824+51_2824+53del rs11332378
NM_152564.5(VPS13B):c.2824+52_2824+53del rs11332378
NM_152564.5(VPS13B):c.2824+53del rs11332378
NM_152564.5(VPS13B):c.2824+94dup rs200867011
NM_152564.5(VPS13B):c.2824+97G>C rs7840337
NM_152564.5(VPS13B):c.291+139del rs34774482
NM_152564.5(VPS13B):c.291+139dup rs34774482
NM_152564.5(VPS13B):c.2934+263del rs141217373
NM_152564.5(VPS13B):c.3083-86A>T rs3103703
NM_152564.5(VPS13B):c.3445+247G>A rs3105195
NM_152564.5(VPS13B):c.4042+39TCCC[10] rs554230536
NM_152564.5(VPS13B):c.4042+39TCCC[7] rs554230536
NM_152564.5(VPS13B):c.4042+39TCCC[9] rs554230536
NM_152564.5(VPS13B):c.4042+68C>T rs146234458
NM_152564.5(VPS13B):c.4042+90TCTG[4] rs369706839
NM_152564.5(VPS13B):c.4042+90TCTG[7] rs369706839
NM_152564.5(VPS13B):c.412+341del rs56378823
NM_152564.5(VPS13B):c.4225-55_4225-54insA rs201718862
NM_152564.5(VPS13B):c.4746-85C>T rs1487024
NM_152564.5(VPS13B):c.4949+241dup rs5893492
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.8995-190AC[19] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[28] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[29] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[30] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[31] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[33] rs755074579
NM_152564.5(VPS13B):c.8995-232dup rs71572044
NM_152564.5(VPS13B):c.9331-137C>A rs58393536
NM_152564.5(VPS13B):c.9331-98dup rs68156520
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158

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