ClinVar Miner

List of variants in gene LIG4 reported as uncertain significance for Inborn genetic diseases

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) rs143590752 0.00044
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg) rs142144659 0.00036
NM_206937.2(LIG4):c.1169G>A (p.Ser390Asn) rs35469724 0.00014
NM_206937.2(LIG4):c.2245T>C (p.Ser749Pro) rs138080550 0.00009
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala) rs137899041 0.00008
NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys) rs375437614 0.00004
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr) rs201176444 0.00003
NM_206937.2(LIG4):c.2267G>A (p.Arg756His) rs147410837 0.00002
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln) rs748385144 0.00002
NM_206937.2(LIG4):c.1193G>A (p.Gly398Asp) rs538646268 0.00001
NM_206937.2(LIG4):c.1538A>G (p.Lys513Arg) rs538857114 0.00001
NM_206937.2(LIG4):c.1759G>A (p.Asp587Asn) rs377478239 0.00001
NM_206937.2(LIG4):c.1807A>T (p.Arg603Trp) rs762041406 0.00001
NM_206937.2(LIG4):c.117C>A (p.Phe39Leu) rs1414587110
NM_206937.2(LIG4):c.1300C>T (p.Pro434Ser)
NM_206937.2(LIG4):c.161A>G (p.His54Arg)
NM_206937.2(LIG4):c.1646T>C (p.Ile549Thr)
NM_206937.2(LIG4):c.1703A>C (p.Asp568Ala)
NM_206937.2(LIG4):c.1729C>T (p.Arg577Cys)
NM_206937.2(LIG4):c.191T>C (p.Phe64Ser)
NM_206937.2(LIG4):c.2288A>C (p.Asp763Ala)
NM_206937.2(LIG4):c.2486T>C (p.Leu829Pro) rs146597721
NM_206937.2(LIG4):c.2662A>C (p.Ile888Leu) rs148711190
NM_206937.2(LIG4):c.362A>G (p.Asp121Gly)
NM_206937.2(LIG4):c.581T>C (p.Leu194Ser)
NM_206937.2(LIG4):c.631G>C (p.Ala211Pro)
NM_206937.2(LIG4):c.797A>C (p.Gln266Pro) rs1878528082
NM_206937.2(LIG4):c.971A>G (p.Gln324Arg) rs1878495689

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