ClinVar Miner

List of variants in gene SPTB reported as pathogenic for Elliptocytosis 3

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Total variants: 7
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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.6133_6134GA[3] (p.Lys2046fs) rs863223303
NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro) rs121918645
NM_001355436.2(SPTB):c.6177del (p.Ser2060fs)
NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro) rs121918650
NM_001355436.2(SPTB):c.6269+3G>T rs863223302

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