ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance for Seizures

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Total variants: 16
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser)
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960
NM_001130438.3(SPTAN1):c.2193+4G>A
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.3640C>T (p.Arg1214Cys)
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4596-5T>C
NM_001130438.3(SPTAN1):c.5206G>C (p.Asp1736His)
NM_001130438.3(SPTAN1):c.5941del (p.Ser1981fs) rs1564311685
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764

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