List of variants in gene SPTB reported as pathogenic by OMIM

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro)	rs121918645	0.00001
NG_016202.2:g.(105169_105646)_(109769_110365)del
NM_001355436.2(SPTB):c.1912del (p.Arg638fs)	rs863223304
NM_001355436.2(SPTB):c.1A>G (p.Met1Val)	rs121918651
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter)	rs267607086
NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg)	rs121918646
NM_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly)	rs121918647
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)	rs121918648
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)	rs121918649
NM_001355436.2(SPTB):c.6135_6136dup (p.Lys2046fs)	rs863223303
NM_001355436.2(SPTB):c.6177del (p.Ser2060fs)	rs1594753904
NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro)	rs121918650
NM_001355436.2(SPTB):c.6269+3G>T	rs863223302

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