ClinVar Miner

List of variants in gene ENG reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 0.00007
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) rs121918402 0.00006
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 0.00003
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp) rs780987528 0.00003
NM_001114753.3(ENG):c.1876G>A (p.Val626Met) rs745843047 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met) rs201031046 0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) rs768873662 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_000118.3(ENG):c.-339C>T rs554349374
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys) rs892005175
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.387G>A (p.Glu129=) rs1588583668
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) rs2131890408
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) rs1255912441
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) rs1830569895
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410

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