ClinVar Miner

List of variants in gene SPTAN1 studied for Inborn genetic diseases

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Total variants: 3
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.21A>T (p.Lys7Asn) rs1554735370
NM_001130438.3(SPTAN1):c.3669G>C (p.Glu1223Asp) rs747129367
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114

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