ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1J; Autosomal dominant nonsyndromic hearing loss 10

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Total variants: 33
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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.*2799C>A rs143596676 0.00882
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_004100.5(EYA4):c.*2511G>A rs560590444 0.00040
NM_004100.5(EYA4):c.*3226A>C rs73546871 0.00035
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) rs143757415 0.00034
NM_004100.5(EYA4):c.1617-13C>G rs756045097 0.00018
NM_004100.5(EYA4):c.*1943C>T rs150567885 0.00007
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004100.5(EYA4):c.*3267C>A rs886061099 0.00006
NM_004100.5(EYA4):c.*732A>G rs902919934 0.00004
NM_004100.5(EYA4):c.*2049T>C rs752513150 0.00003
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.458C>G (p.Ser153Cys) rs1554261941 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) rs201644472 0.00002
NM_004100.5(EYA4):c.370+16C>T rs376239950 0.00002
NM_004100.5(EYA4):c.*1551G>T rs895041455 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1494C>T (p.Asn498=) rs748934740 0.00001
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln) rs1173508611 0.00001
NM_004100.5(EYA4):c.1840-16T>G rs1039495587 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00001
NM_004100.5(EYA4):c.601G>A (p.Ala201Thr) rs765515937 0.00001
NM_004100.5(EYA4):c.83+5A>G rs1060502995 0.00001
NM_004100.5(EYA4):c.*1532G>A rs776008831
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn) rs1321644184
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) rs1394230343
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472

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