List of variants in gene SPTB reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)	rs757836263	0.00002
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)	rs2139621075
NM_001355436.2(SPTB):c.1182_1182+9del	rs2139613030
NM_001355436.2(SPTB):c.1189del (p.Glu397fs)
NM_001355436.2(SPTB):c.1530G>A (p.Trp510Ter)	rs2139602480
NM_001355436.2(SPTB):c.1796-1G>C
NM_001355436.2(SPTB):c.1933G>T (p.Glu645Ter)	rs2082718032
NM_001355436.2(SPTB):c.1A>G (p.Met1Val)	rs121918651
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter)	rs1566775577
NM_001355436.2(SPTB):c.2175G>A (p.Trp725Ter)
NM_001355436.2(SPTB):c.281dup (p.Leu95fs)	rs2139642530
NM_001355436.2(SPTB):c.3128G>A (p.Trp1043Ter)	rs1594775390
NM_001355436.2(SPTB):c.3202C>T (p.Gln1068Ter)
NM_001355436.2(SPTB):c.3369_3370del (p.Lys1126fs)
NM_001355436.2(SPTB):c.3391C>T (p.Gln1131Ter)	rs2082573854
NM_001355436.2(SPTB):c.3496C>T (p.Gln1166Ter)
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)	rs150471537
NM_001355436.2(SPTB):c.3984G>A (p.Trp1328Ter)
NM_001355436.2(SPTB):c.4058del (p.Lys1353fs)	rs1594770057
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter)	rs1594767593
NM_001355436.2(SPTB):c.4407_4410del (p.Lys1471fs)	rs2139533094
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)	rs760938057
NM_001355436.2(SPTB):c.4767C>G (p.Tyr1589Ter)	rs746722532
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter)	rs2139511447
NM_001355436.2(SPTB):c.5197del (p.Arg1733fs)
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter)	rs267607086
NM_001355436.2(SPTB):c.5494G>T (p.Glu1832Ter)	rs532526634
NM_001355436.2(SPTB):c.5528_5535del (p.Arg1843fs)	rs2139502154
NM_001355436.2(SPTB):c.5941del (p.Arg1981fs)	rs2139486055
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs)	rs2139480757

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