ClinVar Miner

List of variants in gene EYA1 reported as uncertain significance for Melnick-Fraser syndrome

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.121G>A (p.Glu41Lys) rs561111097 0.00006
NM_000503.6(EYA1):c.175G>A (p.Gly59Arg) rs146216506 0.00003
NM_000503.6(EYA1):c.1474C>T (p.Arg492Trp) rs1226367549 0.00002
NM_000503.6(EYA1):c.34C>T (p.Arg12Cys) rs530921368 0.00002
NM_000503.6(EYA1):c.639+14C>T rs775548082 0.00002
NM_000503.6(EYA1):c.718A>G (p.Met240Val) rs771549701 0.00002
NM_000503.6(EYA1):c.1273C>T (p.Arg425Trp) rs779423947 0.00001
NM_000503.6(EYA1):c.1387G>A (p.Ala463Thr) rs1263352919 0.00001
NM_000503.6(EYA1):c.1454C>T (p.Ala485Val) rs778970223 0.00001
NM_000503.6(EYA1):c.230G>A (p.Arg77Gln) rs770356158 0.00001
NM_000503.6(EYA1):c.289A>G (p.Ile97Val) rs1422583050 0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) rs1007684729 0.00001
NM_000503.6(EYA1):c.1009C>T (p.His337Tyr)
NM_000503.6(EYA1):c.1051-12T>G rs2128904625
NM_000503.6(EYA1):c.1082G>C (p.Arg361Pro)
NM_000503.6(EYA1):c.113A>G (p.Asn38Ser)
NM_000503.6(EYA1):c.1140+4A>C
NM_000503.6(EYA1):c.1140+4_1140+7del rs1554605968
NM_000503.6(EYA1):c.1140+5G>A rs1812854875
NM_000503.6(EYA1):c.1169T>C (p.Val390Ala)
NM_000503.6(EYA1):c.1190A>G (p.Gln397Arg)
NM_000503.6(EYA1):c.1198A>G (p.Ser400Gly) rs1809290834
NM_000503.6(EYA1):c.1217C>G (p.Thr406Arg)
NM_000503.6(EYA1):c.1223G>A (p.Gly408Asp)
NM_000503.6(EYA1):c.1246G>A (p.Ala416Thr)
NM_000503.6(EYA1):c.1273C>G (p.Arg425Gly)
NM_000503.6(EYA1):c.128A>C (p.Lys43Thr)
NM_000503.6(EYA1):c.1313A>G (p.Tyr438Cys)
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) rs1374801818
NM_000503.6(EYA1):c.1445C>T (p.Ala482Val)
NM_000503.6(EYA1):c.1468C>G (p.His490Asp) rs748575456
NM_000503.6(EYA1):c.1475+6del
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln) rs2128850745
NM_000503.6(EYA1):c.1525T>A (p.Leu509Met)
NM_000503.6(EYA1):c.1577T>G (p.Ile526Ser)
NM_000503.6(EYA1):c.158C>T (p.Ala53Val)
NM_000503.6(EYA1):c.1609T>C (p.Cys537Arg) rs1554594182
NM_000503.6(EYA1):c.1618A>G (p.Arg540Gly)
NM_000503.6(EYA1):c.1654GTT[1] (p.Val553del) rs1563621870
NM_000503.6(EYA1):c.1717A>G (p.Arg573Gly) rs775343638
NM_000503.6(EYA1):c.206T>C (p.Ile69Thr)
NM_000503.6(EYA1):c.218G>A (p.Ser73Asn)
NM_000503.6(EYA1):c.248C>G (p.Ser83Cys) rs748482012
NM_000503.6(EYA1):c.273-3T>C rs2129031680
NM_000503.6(EYA1):c.417T>C (p.Tyr139=)
NM_000503.6(EYA1):c.418+3G>C rs1554550269
NM_000503.6(EYA1):c.418+5G>A
NM_000503.6(EYA1):c.419-5T>C
NM_000503.6(EYA1):c.515C>T (p.Thr172Ile)
NM_000503.6(EYA1):c.56C>G (p.Ser19Cys) rs2129069830
NM_000503.6(EYA1):c.585A>G (p.Ile195Met)
NM_000503.6(EYA1):c.647C>T (p.Pro216Leu)
NM_000503.6(EYA1):c.664G>T (p.Gly222Cys)
NM_000503.6(EYA1):c.679G>A (p.Ala227Thr)
NM_000503.6(EYA1):c.689A>G (p.Tyr230Cys)
NM_000503.6(EYA1):c.755C>T (p.Thr252Ile)
NM_000503.6(EYA1):c.811A>T (p.Thr271Ser)
NM_000503.6(EYA1):c.8T>G (p.Met3Arg)
NM_000503.6(EYA1):c.906A>T (p.Lys302Asn)
NM_000503.6(EYA1):c.966+4C>G
NM_000503.6(EYA1):c.966+5G>C rs606231357

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