List of variants in gene VPS13B reported by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)	rs386834080	0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)	rs386834093	0.00001
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter)	rs2492237648
NM_152564.5(VPS13B):c.11938T>G (p.Phe3980Val)	rs2492412561
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)	rs386834070
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter)	rs2488877462
NM_152564.5(VPS13B):c.292-1G>A	rs1057520768
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)	rs386834090
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)	rs2491289979
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs)	rs2130858031

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