List of variants in gene VPS13B reported as likely 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: 22

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)	rs180177354	0.00002
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)	rs765998879	0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)	rs386834086	0.00001
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)	rs180177365	0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)	rs386834110	0.00001
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)	rs1427643616
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)	rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)	rs2492278857
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)	rs1554586953
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)	rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)	rs1161589003
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)	rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)	rs786204456
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)	rs180177355
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)	rs1297058561
NM_152564.5(VPS13B):c.8446-1G>T	rs1554566596
NM_152564.5(VPS13B):c.8995-2A>G	rs1554569259
NM_152564.5(VPS13B):c.9331-2del
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)	rs886041185

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