ClinVar Miner

List of variants in gene VPS13C reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020821.3(VPS13C):c.6024G>C (p.Glu2008Asp) rs78071599 0.01394
NM_020821.3(VPS13C):c.6469C>T (p.Leu2157Phe) rs75341202 0.00824
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=) rs115871350 0.00801
NM_020821.3(VPS13C):c.3234T>C (p.Asp1078=) rs114941240 0.00800
NM_020821.3(VPS13C):c.2797A>G (p.Thr933Ala) rs146460562 0.00358
NM_020821.3(VPS13C):c.11176A>G (p.Ile3726Val) rs115819951 0.00355
NM_020821.3(VPS13C):c.7139A>G (p.His2380Arg) rs139993005 0.00300
NM_020821.3(VPS13C):c.8711C>T (p.Ser2904Leu) rs115869241 0.00290
NM_020821.3(VPS13C):c.10164A>G (p.Arg3388=) rs149307561 0.00200
NM_020821.3(VPS13C):c.5060C>T (p.Ala1687Val) rs114089496 0.00165
NM_020821.3(VPS13C):c.1484-2A>G rs143639809 0.00156
NM_020821.3(VPS13C):c.11143G>T (p.Asp3715Tyr) rs62007358 0.00101
NM_020821.3(VPS13C):c.10225-6T>C rs191499916 0.00095
NM_020821.3(VPS13C):c.6815T>C (p.Ile2272Thr) rs141890160 0.00052
NM_020821.3(VPS13C):c.7560C>G (p.Ala2520=) rs72747888 0.00049
NM_020821.3(VPS13C):c.7861G>A (p.Val2621Ile) rs114277501 0.00035
NM_020821.3(VPS13C):c.10955G>A (p.Arg3652Gln) rs146072191 0.00034
NM_020821.3(VPS13C):c.387C>T (p.Gly129=) rs139665824 0.00022
NM_020821.3(VPS13C):c.951G>A (p.Thr317=) rs115245671 0.00016
NM_020821.3(VPS13C):c.192A>G (p.Lys64=) rs150324870 0.00011
NM_020821.3(VPS13C):c.9770A>T (p.Gln3257Leu) rs376065379 0.00011
NM_020821.3(VPS13C):c.1367G>A (p.Gly456Glu) rs748754522 0.00009
NM_020821.3(VPS13C):c.864A>G (p.Ile288Met) rs751295864 0.00009
NM_020821.3(VPS13C):c.8071C>G (p.His2691Asp) rs139139141 0.00008
NM_020821.3(VPS13C):c.8996T>C (p.Met2999Thr) rs201446031 0.00006
NM_020821.3(VPS13C):c.2927C>T (p.Pro976Leu) rs760331474 0.00005
NM_020821.3(VPS13C):c.826-2A>G rs769205655 0.00002
NM_020821.3(VPS13C):c.6880C>T (p.Arg2294Ter) rs756128065 0.00001
NM_020821.3(VPS13C):c.10029C>T (p.Ser3343=)
NM_020821.3(VPS13C):c.10232A>T (p.Lys3411Ile)
NM_020821.3(VPS13C):c.10820G>A (p.Arg3607His)
NM_020821.3(VPS13C):c.1098T>A (p.Leu366=)
NM_020821.3(VPS13C):c.1330G>C (p.Ala444Pro)
NM_020821.3(VPS13C):c.1798A>C (p.Ile600Leu) rs116507802
NM_020821.3(VPS13C):c.1842C>T (p.Thr614=)
NM_020821.3(VPS13C):c.2138T>C (p.Leu713Pro) rs2045880678
NM_020821.3(VPS13C):c.2948C>G (p.Ser983Cys) rs200799568
NM_020821.3(VPS13C):c.3003_3004del (p.Asn1001fs) rs2045367114
NM_020821.3(VPS13C):c.3196_3197delinsT (p.Asn1066fs) rs2140329273
NM_020821.3(VPS13C):c.3297C>T (p.Asn1099=)
NM_020821.3(VPS13C):c.4166-8C>A rs200945332
NM_020821.3(VPS13C):c.4326A>C (p.Ser1442=)
NM_020821.3(VPS13C):c.4339del (p.Arg1447fs) rs2044811142
NM_020821.3(VPS13C):c.5977G>A (p.Val1993Ile)
NM_020821.3(VPS13C):c.5993G>A (p.Cys1998Tyr)
NM_020821.3(VPS13C):c.6010A>C (p.Arg2004=)
NM_020821.3(VPS13C):c.6357C>G (p.Ser2119Arg)
NM_020821.3(VPS13C):c.7212+7C>A rs1207234399
NM_020821.3(VPS13C):c.751C>T (p.Arg251Ter)
NM_020821.3(VPS13C):c.8017C>A (p.Arg2673=)
NM_020821.3(VPS13C):c.8326A>T (p.Asn2776Tyr) rs1358500571
NM_020821.3(VPS13C):c.8366T>C (p.Ile2789Thr) rs72747885
NM_020821.3(VPS13C):c.8490A>T (p.Ser2830=)
NM_020821.3(VPS13C):c.8574C>T (p.Ser2858=) rs1596322324
NM_020821.3(VPS13C):c.8808A>T (p.Arg2936=)
NM_020821.3(VPS13C):c.9526C>G (p.Arg3176Gly) rs115741196

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.