ClinVar Miner

List of variants in gene KCNT1 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 16
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HGVS dbSNP
NM_020822.2(KCNT1):c.3178-12_3178-3dupTGCCCTGCCC rs757968008
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) rs146032445
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.254+20delinsGGC rs1554763415
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.2944-52CTCC[4] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[5] rs55843930
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263
NM_020822.3(KCNT1):c.3157-8C>T rs371874401
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) rs140628824
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.854+10G>A rs146470183
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522

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