List of variants in gene VPS13B reported as pathogenic by 3billion

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)	rs180177356	0.00001
NM_152564.5(VPS13B):c.11171_11174dup (p.Leu3726fs)	rs1057518228
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter)	rs2133295344
NM_152564.5(VPS13B):c.3400dup (p.Leu1134fs)
NM_152564.5(VPS13B):c.3445+1G>A
NM_152564.5(VPS13B):c.412+1G>T	rs1057517295
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)	rs386834098
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs)	rs386834105
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter)	rs1205613982

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