ClinVar Miner

List of variants in gene SPTAN1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749 0.00001
NM_001130438.3(SPTAN1):c.1085+4C>T
NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)
NM_001130438.3(SPTAN1):c.2871+10dup
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro) rs1564315528
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile) rs1341044436

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