ClinVar Miner

List of variants in gene SPTAN1 reported as pathogenic by Bioinformatics Core,Luxembourg Center for Systems Biomedicine

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Total variants: 7
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) rs1554759745
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) rs1441152520

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