List of variants in gene VPS13B reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	rs144539572	0.00008
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)	rs120074151	0.00004
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)	rs386834061	0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)	rs386834078	0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)	rs386834113	0.00002
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)	rs180177356	0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)	rs120074152	0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)	rs386834080	0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)	rs386834107	0.00001
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)	rs180177371
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)	rs386834066
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)	rs386834067
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)	rs180177327
NM_152564.5(VPS13B):c.4745+2T>C	rs386834091
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs)	rs1563806122
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)	rs1554853667
NM_152564.5(VPS13B):c.8622-9A>G	rs386834116
NM_152564.5(VPS13B):c.9331-1G>T	rs386834119
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT

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