List of variants in gene SPTB reported as likely pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)	rs757836263	0.00003
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)	rs2503162325
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)	rs2503160354
NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)	rs2503130437
NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)	rs2503070132
NM_001355436.2(SPTB):c.5408del (p.Phe1803fs)
NM_001355436.2(SPTB):c.647+1G>A	rs2503210409

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