ClinVar Miner

List of variants in gene SPTAN1 reported by Athena Diagnostics Inc

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Total variants: 27
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.2158C>A (p.His720Asn)
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005
NM_001130438.3(SPTAN1):c.2645G>A (p.Arg882His) rs1486021166
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864
NM_001130438.3(SPTAN1):c.3519+5G>T rs915019884
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=)
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=)
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln) rs1564286745
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=) rs775305903
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=) rs200641770
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6616_6618GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697

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