ClinVar Miner

List of variants in gene EYA4 studied for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_004100.5(EYA4):c.-76C>T rs78081370 0.04026
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_004100.5(EYA4):c.-445C>T rs112196731 0.00488
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_004100.5(EYA4):c.-356T>C rs375432060 0.00104
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) rs143757415 0.00034
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004100.5(EYA4):c.-124C>T rs886061088 0.00010
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004100.5(EYA4):c.1107+13A>C rs775989680 0.00005
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile) rs778473535 0.00004
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln) rs762144530 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004100.5(EYA4):c.970+5A>G rs886061089 0.00003
NM_004100.5(EYA4):c.1107+10C>G rs752586864 0.00002
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) rs201644472 0.00002
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) rs747223436 0.00002
NM_004100.5(EYA4):c.370+16C>T rs376239950 0.00002
NM_004100.5(EYA4):c.-256C>T rs886061086 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.438-15T>C rs752763979 0.00001
NM_004100.5(EYA4):c.83+5A>G rs1060502995 0.00001
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410 0.00001
NM_004100.5(EYA4):c.-244C>G rs112173873
NM_004100.5(EYA4):c.-326C>G rs117602794
NM_004100.5(EYA4):c.-408G>T rs886061085
NM_004100.5(EYA4):c.-430T>C rs886061084
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs) rs2128707546
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs) rs2128707619
NM_004100.5(EYA4):c.1122G>A (p.Trp374Ter)
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter) rs2128711268
NM_004100.5(EYA4):c.1181A>G (p.Lys394Arg) rs1796360086
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) rs1394230343
NM_004100.5(EYA4):c.344G>C (p.Gly115Ala) rs1793929707
NM_004100.5(EYA4):c.441del (p.Tyr148fs) rs878853223
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter) rs1794473050
NM_004100.5(EYA4):c.580+2T>C rs2128658900
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.701C>T (p.Thr234Ile)
NM_004100.5(EYA4):c.804+2T>A rs2128665071
NM_004100.5(EYA4):c.804+2del rs2128665075
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp) rs757252384
NM_004100.5(EYA4):c.905del (p.Gly302fs)
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter) rs2128674939
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004100.5(EYA4):c.992dup (p.Ser331fs)

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