List of variants in gene VPS13B reported as pathogenic for Inborn genetic diseases

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)	rs120074152	0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter)	rs1156390688	0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)	rs386834093	0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)	rs371364257	0.00001
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)	rs1427643616
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs)	rs1816414644
NM_152564.5(VPS13B):c.11655del (p.Val3886fs)	rs1212294259
NM_152564.5(VPS13B):c.1279G>T (p.Glu427Ter)	rs1809981172
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter)	rs869312923
NM_152564.5(VPS13B):c.351del (p.Lys117fs)
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)	rs386834090
NM_152564.5(VPS13B):c.5387_5390dup (p.Arg1799fs)	rs1554884733
NM_152564.5(VPS13B):c.6657+1G>T	rs180177366
NM_152564.5(VPS13B):c.6748C>T (p.Gln2250Ter)	rs1014496937
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)	rs180177329
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)	rs753770252
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)	rs886041185

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