ClinVar Miner

List of variants in gene SEPSECS studied for Inborn genetic diseases

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly) rs150309842 0.00099
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala) rs142133435 0.00046
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_016955.4(SEPSECS):c.1207G>A (p.Ala403Thr) rs748528815 0.00001
NM_016955.4(SEPSECS):c.1057AAG[1] (p.Lys354del)
NM_016955.4(SEPSECS):c.1079A>G (p.Asn360Ser)
NM_016955.4(SEPSECS):c.1120+5T>C
NM_016955.4(SEPSECS):c.186C>G (p.Asp62Glu)
NM_016955.4(SEPSECS):c.270G>T (p.Arg90Ser)
NM_016955.4(SEPSECS):c.295G>A (p.Gly99Ser)
NM_016955.4(SEPSECS):c.319A>G (p.Lys107Glu)
NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp) rs1553881788
NM_016955.4(SEPSECS):c.424A>G (p.Met142Val)
NM_016955.4(SEPSECS):c.425T>C (p.Met142Thr)
NM_016955.4(SEPSECS):c.612dup (p.Val205fs) rs1553881510
NM_016955.4(SEPSECS):c.633A>T (p.Glu211Asp)
NM_016955.4(SEPSECS):c.664T>G (p.Ser222Ala)
NM_016955.4(SEPSECS):c.937A>G (p.Arg313Gly)
NM_016955.4(SEPSECS):c.973A>C (p.Thr325Pro)
NM_016955.5(SEPSECS):c.808dup rs776969714

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