List of variants in gene VPS13B reported by Institute of Human Genetics, University of Leipzig Medical Center

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)	rs138127778	0.00637
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	rs145890213	0.00068
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)	rs141046414	0.00054
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)	rs773242093	0.00029
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)	rs1161589003
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)	rs140936527
NM_152564.5(VPS13B):c.2828del (p.Ala943fs)	rs1554765140
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr)	rs145417421
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs)	rs2133808512
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del)	rs1057519183
NM_152564.5(VPS13B):c.5908+2dup	rs587777381
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu)	rs180177370

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