ClinVar Miner

List of variants in gene combination EYA4, TARID reported by Ambry Genetics

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_004100.5(EYA4):c.1329G>A (p.Gly443=) rs141300030 0.00067
NM_004100.5(EYA4):c.1495G>A (p.Val499Ile) rs142122118 0.00019
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_004100.5(EYA4):c.1422G>A (p.Gly474=) rs138141986 0.00011
NM_004100.5(EYA4):c.1773G>A (p.Arg591=) rs772266373 0.00006
NM_004100.5(EYA4):c.1611C>T (p.Ser537=) rs757995893 0.00004
NM_004100.5(EYA4):c.1437G>A (p.Arg479=) rs142263016 0.00003
NM_004100.5(EYA4):c.1523G>C (p.Arg508Thr) rs543789215 0.00003
NM_004100.5(EYA4):c.1534C>T (p.Leu512=) rs1451874529 0.00003
NM_004100.5(EYA4):c.1653A>G (p.Gln551=) rs747398475 0.00003
NM_004100.5(EYA4):c.1707C>A (p.Pro569=) rs1197553602 0.00003
NM_004100.5(EYA4):c.1445C>T (p.Ala482Val) rs1042738234 0.00002
NM_004100.5(EYA4):c.1644G>A (p.Thr548=) rs371913096 0.00002
NM_004100.5(EYA4):c.1685A>G (p.Tyr562Cys) rs199621266 0.00002
NM_004100.5(EYA4):c.1294G>C (p.Val432Leu) rs145253833 0.00001
NM_004100.5(EYA4):c.1308T>C (p.Asp436=) rs1029890565 0.00001
NM_004100.5(EYA4):c.1434G>T (p.Met478Ile) rs1187396214 0.00001
NM_004100.5(EYA4):c.1494C>T (p.Asn498=) rs748934740 0.00001
NM_004100.5(EYA4):c.1624T>G (p.Cys542Gly) rs1429034123 0.00001
NM_004100.5(EYA4):c.1635C>T (p.Val545=) rs770537738 0.00001
NM_004100.5(EYA4):c.1671G>A (p.Ala557=) rs768995654 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004100.5(EYA4):c.1893C>G (p.His631Gln) rs769828566 0.00001
NM_004100.5(EYA4):c.1300A>G (p.Ile434Val)
NM_004100.5(EYA4):c.1301T>C (p.Ile434Thr) rs766340934
NM_004100.5(EYA4):c.1340G>T (p.Ser447Ile)
NM_004100.5(EYA4):c.1405A>G (p.Thr469Ala)
NM_004100.5(EYA4):c.1411G>A (p.Val471Ile)
NM_004100.5(EYA4):c.1434G>A (p.Met478Ile) rs1187396214
NM_004100.5(EYA4):c.1471T>G (p.Leu491Val)
NM_004100.5(EYA4):c.1496T>G (p.Val499Gly)
NM_004100.5(EYA4):c.1521G>A (p.Lys507=)
NM_004100.5(EYA4):c.1523G>A (p.Arg508Lys) rs543789215
NM_004100.5(EYA4):c.1546G>A (p.Ala516Thr)
NM_004100.5(EYA4):c.1549G>A (p.Glu517Lys)
NM_004100.5(EYA4):c.1593G>A (p.Lys531=)
NM_004100.5(EYA4):c.1680A>C (p.Leu560=) rs535466937
NM_004100.5(EYA4):c.1686T>C (p.Tyr562=)
NM_004100.5(EYA4):c.1707C>G (p.Pro569=) rs1197553602
NM_004100.5(EYA4):c.1707C>T (p.Pro569=) rs1197553602
NM_004100.5(EYA4):c.1760G>A (p.Arg587Gln)
NM_004100.5(EYA4):c.1783A>C (p.Lys595Gln) rs1344051266
NM_004100.5(EYA4):c.1786G>A (p.Val596Ile)
NM_004100.5(EYA4):c.1791G>A (p.Val597=) rs1583567927
NM_004100.5(EYA4):c.1816GAA[2] (p.Glu608del) rs763110500

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