List of variants in gene SGCB reported as pathogenic by Baylor Genetics

Minimum submission review status:		Collection method:
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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	rs150518260	0.00019
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	rs555514820	0.00002
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)	rs779516489	0.00001
NM_000232.5(SGCB):c.621+1G>T	rs1264362642	0.00001
NM_000232.5(SGCB):c.622-2A>G	rs780596734	0.00001
NM_000232.5(SGCB):c.253_254del (p.Val85fs)	rs1553940274
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)	rs750773622
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)	rs751427729
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)	rs1013015106
NM_000232.5(SGCB):c.572del (p.Leu191fs)	rs886042546
NM_000232.5(SGCB):c.622-1G>C	rs2109370093
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)	rs775458201

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