ClinVar Miner

List of variants in gene SPTBN1 studied for not specified

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003128.3(SPTBN1):c.6920C>A (p.Ser2307Tyr) rs749303998 0.00002
NM_003128.3(SPTBN1):c.1707G>A (p.Lys569=) rs1678478046 0.00001
NM_003128.3(SPTBN1):c.2168G>A (p.Arg723Gln) rs758541003 0.00001
NM_003128.3(SPTBN1):c.220C>T (p.Arg74Trp) rs1377569267 0.00001
NM_003128.3(SPTBN1):c.4861G>A (p.Ala1621Thr) rs769878216 0.00001
NM_003128.3(SPTBN1):c.718C>G (p.Leu240Val) rs752488873 0.00001
NM_003128.3(SPTBN1):c.890C>G (p.Ala297Gly) rs1678045192 0.00001
NM_003128.3(SPTBN1):c.2034C>A (p.Ser678Arg)
NM_003128.3(SPTBN1):c.2998G>A (p.Gly1000Ser)
NM_003128.3(SPTBN1):c.3092A>C (p.Gln1031Pro)
NM_003128.3(SPTBN1):c.3768_3773delACATAG
NM_003128.3(SPTBN1):c.4166G>A (p.Cys1389Tyr) rs763159763
NM_003128.3(SPTBN1):c.4354A>G (p.Ser1452Gly)
NM_003128.3(SPTBN1):c.4543C>T (p.His1515Tyr) rs1238041705
NM_003128.3(SPTBN1):c.4652T>C (p.Ile1551Thr) rs1014202719
NM_003128.3(SPTBN1):c.4712A>G (p.Lys1571Arg) rs2549557471
NM_003128.3(SPTBN1):c.5311T>G (p.Ser1771Ala)
NM_003128.3(SPTBN1):c.5595G>C (p.Glu1865Asp) rs2549567776

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