List of variants in gene VPS13B reported as pathogenic by Natera, Inc.

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: 22

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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.1915C>T (p.Arg639Ter)	rs764776104	0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)	rs386834078	0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)	rs140353201	0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)	rs180177365	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.6976C>T (p.Arg2326Ter)	rs120074150	0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)	rs386834107	0.00001
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)	rs1180933570
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)	rs180177327
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)	rs752399634
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)	rs386834098
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)	rs886041323
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs)	rs761736983
NM_152564.5(VPS13B):c.6865+1G>T	rs202046738
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)	rs180177329
NM_152564.5(VPS13B):c.9331-1G>T	rs386834119
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)	rs886041185

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