ClinVar Miner

List of variants in gene SPTAN1 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_001130438.2(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.2(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437
NM_001130438.2(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.2(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.2(SPTAN1):c.5358-8_5358-7delTC rs769628464
NM_001130438.2(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.2(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.2(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649
NM_001130438.2(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_001130438.2(SPTAN1):c.774G>A (p.Gln258=) rs138609094

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