ClinVar Miner

List of variants in gene SPTBN1 reported as uncertain significance by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003128.3(SPTBN1):c.4801G>T (p.Ala1601Ser) rs1247888043
NM_003128.3(SPTBN1):c.4997+5G>C rs2549559517
NM_003128.3(SPTBN1):c.6046+5G>A rs2549571147
NM_003128.3(SPTBN1):c.6234G>C (p.Arg2078Ser) rs2549573573
NM_003128.3(SPTBN1):c.7052A>G (p.Lys2351Arg) rs2549587586

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