ClinVar Miner

List of variants in gene ENOX2 reported as uncertain significance

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006375.4(ENOX2):c.71G>C (p.Gly24Ala) rs200961935 0.00026
NM_006375.4(ENOX2):c.818G>A (p.Arg273His) rs143365450 0.00020
NM_006375.4(ENOX2):c.148A>G (p.Met50Val) rs149170162 0.00014
NM_006375.4(ENOX2):c.1520T>G (p.Leu507Arg) rs139213839 0.00004
NM_006375.4(ENOX2):c.1739T>C (p.Leu580Pro) rs756176930 0.00002
NM_006375.4(ENOX2):c.-38-6023T>G rs1476351435 0.00001
NM_006375.4(ENOX2):c.1433C>G (p.Ser478Cys) rs1371480707 0.00001
NM_006375.4(ENOX2):c.1465T>C (p.Tyr489His) rs371121524 0.00001
NM_006375.4(ENOX2):c.169G>A (p.Val57Ile) rs746660820 0.00001
NM_006375.4(ENOX2):c.416G>A (p.Arg139His) rs745972655 0.00001
NM_006375.4(ENOX2):c.623G>A (p.Arg208His) rs779235219 0.00001
GRCh37/hg19 Xq26.1(chrX:129639553-129849174)x2
GRCh37/hg19 Xq26.1(chrX:129639553-129858717)x3
GRCh37/hg19 Xq26.1(chrX:129666782-130172589)x3
GRCh37/hg19 Xq26.1(chrX:129667394-130172589)x2
GRCh37/hg19 Xq26.1(chrX:129711353-129979961)x2
GRCh37/hg19 Xq26.1(chrX:129770027-130160458)x3
NM_006375.4(ENOX2):c.1022G>A (p.Arg341His)
NM_006375.4(ENOX2):c.1027A>T (p.Ile343Phe)
NM_006375.4(ENOX2):c.1031A>G (p.His344Arg)
NM_006375.4(ENOX2):c.1037A>T (p.Asp346Val) rs2521400624
NM_006375.4(ENOX2):c.1231G>A (p.Gly411Ser)
NM_006375.4(ENOX2):c.1336T>C (p.Tyr446His)
NM_006375.4(ENOX2):c.1361A>C (p.Glu454Ala)
NM_006375.4(ENOX2):c.1403A>C (p.Glu468Ala)
NM_006375.4(ENOX2):c.1441T>C (p.Cys481Arg)
NM_006375.4(ENOX2):c.1474G>C (p.Glu492Gln) rs756879398
NM_006375.4(ENOX2):c.1500C>G (p.Ile500Met)
NM_006375.4(ENOX2):c.1726G>A (p.Glu576Lys)
NM_006375.4(ENOX2):c.232A>G (p.Thr78Ala) rs1451094447
NM_006375.4(ENOX2):c.313G>A (p.Gly105Ser) rs2521643192
NM_006375.4(ENOX2):c.365G>T (p.Cys122Phe)
NM_006375.4(ENOX2):c.386G>A (p.Arg129His)
NM_006375.4(ENOX2):c.517G>A (p.Val173Ile)
NM_006375.4(ENOX2):c.530A>G (p.Gln177Arg) rs750023185
NM_006375.4(ENOX2):c.569G>A (p.Arg190His) rs769787314
NM_006375.4(ENOX2):c.593A>G (p.His198Arg)
NM_006375.4(ENOX2):c.621G>C (p.Leu207Phe)
NM_006375.4(ENOX2):c.640C>G (p.Pro214Ala) rs369982515
NM_006375.4(ENOX2):c.743A>G (p.Glu248Gly) rs1203509087
NM_006375.4(ENOX2):c.886C>G (p.Leu296Val) rs757931420
NM_006375.4(ENOX2):c.979C>T (p.Arg327Trp)

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