ClinVar Miner

List of variants in gene EYA1 reported as benign by Invitae

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118 0.13734
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398 0.08547
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404 0.05809
NM_000503.6(EYA1):c.556+18G>T rs113694988 0.02938
NM_000503.6(EYA1):c.1597+18T>C rs76259565 0.02609
NM_000503.6(EYA1):c.1699-3C>T rs117149407 0.01158
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_000503.6(EYA1):c.321T>C (p.Ala107=) rs112282055 0.00162
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224 0.00124
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_000503.6(EYA1):c.1199+13G>T rs200345478 0.00096
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059 0.00069
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681 0.00067
NM_000503.6(EYA1):c.557-11T>A rs201752432 0.00056
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_000503.6(EYA1):c.35G>A (p.Arg12His) rs74720958 0.00035
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_000503.6(EYA1):c.1734G>A (p.Ser578=) rs770876882 0.00027
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_000503.6(EYA1):c.783G>A (p.Pro261=) rs146648560 0.00013
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) rs112593082 0.00007
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) rs727503049 0.00005
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) rs747231434 0.00002
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742 0.00001
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) rs561111097
NM_000503.6(EYA1):c.147C>T (p.Ser49=)
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1598-19ATTT[3]
NM_000503.6(EYA1):c.702G>A (p.Pro234=)

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