ClinVar Miner

List of variants in gene EYA4 reported as uncertain significance by GeneDx

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg) rs758076073 0.00006
NM_004100.5(EYA4):c.454C>G (p.Leu152Val) rs753705589 0.00006
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln) rs762144530 0.00003
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004100.5(EYA4):c.1058G>A (p.Gly353Glu) rs267600817 0.00002
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile) rs778473535 0.00002
NM_004100.5(EYA4):c.211G>A (p.Glu71Lys) rs537561870 0.00002
NM_004100.5(EYA4):c.5A>G (p.Glu2Gly) rs780081930 0.00002
NM_004100.5(EYA4):c.961A>G (p.Asn321Asp) rs202049252 0.00002
NM_004100.5(EYA4):c.1042G>C (p.Gly348Arg) rs1279116848 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1108C>T (p.Arg370Cys) rs576607924 0.00001
NM_004100.5(EYA4):c.1165G>A (p.Gly389Arg) rs563208631 0.00001
NM_004100.5(EYA4):c.217A>G (p.Met73Val) rs970732881 0.00001
NM_004100.5(EYA4):c.349C>T (p.Leu117Phe) rs1044216762 0.00001
NM_004100.5(EYA4):c.407A>G (p.His136Arg) rs751662203 0.00001
NM_004100.5(EYA4):c.509C>T (p.Ser170Leu) rs184768806 0.00001
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00001
NM_004100.5(EYA4):c.550A>G (p.Thr184Ala) rs886039203 0.00001
NM_004100.5(EYA4):c.557A>G (p.Gln186Arg) rs767996783 0.00001
NM_004100.5(EYA4):c.585G>C (p.Leu195Phe) rs1794498749 0.00001
NM_004100.5(EYA4):c.683C>T (p.Thr228Ile) rs747533734 0.00001
NM_004100.5(EYA4):c.740C>G (p.Pro247Arg) rs767398384 0.00001
NM_004100.5(EYA4):c.757G>A (p.Ala253Thr) rs1363627075 0.00001
NM_004100.5(EYA4):c.919A>G (p.Thr307Ala) rs1289099998 0.00001
NM_004100.5(EYA4):c.1015C>G (p.Leu339Val) rs747932742
NM_004100.5(EYA4):c.1016T>G (p.Leu339Arg) rs1796215407
NM_004100.5(EYA4):c.1043G>A (p.Gly348Glu) rs2128707600
NM_004100.5(EYA4):c.106G>A (p.Ala36Thr)
NM_004100.5(EYA4):c.1115T>C (p.Phe372Ser) rs2534877697
NM_004100.5(EYA4):c.124G>C (p.Val42Leu) rs1251312987
NM_004100.5(EYA4):c.131G>A (p.Gly44Asp) rs886039161
NM_004100.5(EYA4):c.152C>T (p.Ser51Phe) rs542906126
NM_004100.5(EYA4):c.155A>C (p.Lys52Thr) rs763983145
NM_004100.5(EYA4):c.187G>A (p.Val63Ile)
NM_004100.5(EYA4):c.235G>A (p.Ala79Thr) rs1157930633
NM_004100.5(EYA4):c.274A>G (p.Thr92Ala) rs1422243347
NM_004100.5(EYA4):c.288T>C (p.Leu96=) rs2534464885
NM_004100.5(EYA4):c.293T>C (p.Val98Ala) rs2128644160
NM_004100.5(EYA4):c.438G>T (p.Lys146Asn) rs2128658396
NM_004100.5(EYA4):c.452T>C (p.Ile151Thr) rs2128658440
NM_004100.5(EYA4):c.578A>T (p.Tyr193Phe)
NM_004100.5(EYA4):c.580G>T (p.Asp194Tyr) rs1199874172
NM_004100.5(EYA4):c.62T>G (p.Val21Gly) rs1786300577
NM_004100.5(EYA4):c.686C>A (p.Pro229Gln) rs769220102
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.733T>C (p.Phe245Leu)
NM_004100.5(EYA4):c.735T>G (p.Phe245Leu)
NM_004100.5(EYA4):c.793G>A (p.Gly265Ser) rs753638348
NM_004100.5(EYA4):c.799C>A (p.Gln267Lys)
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004100.5(EYA4):c.979G>C (p.Asp327His) rs144415484

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