ClinVar Miner

List of variants in gene LIG4 reported by GeneDx

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_206937.2(LIG4):c.-28-294C>T rs3093759 0.14452
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_206937.2(LIG4):c.-28-37T>C rs1805384 0.03664
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638 0.03276
NM_206937.2(LIG4):c.*204A>G rs3093769 0.03275
NM_206937.2(LIG4):c.*131A>T rs3093768 0.03272
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642 0.03272
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_206937.2(LIG4):c.*129A>G rs3093767 0.02174
NM_206937.2(LIG4):c.*54G>A rs2232643 0.01584
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764 0.00779
NM_206937.2(LIG4):c.*104C>G rs2232644 0.00690
NM_206937.2(LIG4):c.*3del rs551263548 0.00602
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910 0.00599
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639 0.00524
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637 0.00342
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196 0.00069
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) rs143767581 0.00043
NM_206937.2(LIG4):c.898G>A (p.Asp300Asn) rs143810759 0.00021
NM_206937.2(LIG4):c.1169G>A (p.Ser390Asn) rs35469724 0.00014
NM_206937.2(LIG4):c.230G>A (p.Arg77Lys) rs199707115 0.00011
NM_206937.2(LIG4):c.1604C>T (p.Pro535Leu) rs374074342 0.00008
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr) rs201176444 0.00003
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln) rs748385144 0.00002
NM_206937.2(LIG4):c.1171A>G (p.Ser391Gly) rs1357544473 0.00001
NM_206937.2(LIG4):c.1193G>A (p.Gly398Asp) rs538646268 0.00001
NM_206937.2(LIG4):c.1244T>C (p.Ile415Thr) rs1216434992 0.00001
NM_206937.2(LIG4):c.1904A>G (p.Lys635Arg) rs1433231909 0.00001
NM_206937.2(LIG4):c.321C>T (p.Leu107=) rs751434618 0.00001
NM_206937.2(LIG4):c.789G>C (p.Met263Ile) rs1295268527 0.00001
NM_206937.2(LIG4):c.-28-123dup rs3093761
NM_206937.2(LIG4):c.1025T>C (p.Phe342Ser) rs773271264
NM_206937.2(LIG4):c.1144_1145del (p.Leu382fs) rs1246940345
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1536G>A (p.Met512Ile) rs2138972988
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.2212_2213delinsAT (p.Trp738Met)
NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys) rs200756045
NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs) rs765317127
NM_206937.2(LIG4):c.2672A>G (p.Glu891Gly) rs1429985847
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206937.2(LIG4):c.907G>C (p.Gly303Arg) rs1131691430

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