ClinVar Miner

List of variants in gene EYA1 reported as likely benign for Melnick-Fraser syndrome

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_000503.6(EYA1):c.884T>C (p.Leu295Ser) rs146687496 0.00041
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219 0.00023
NM_000503.6(EYA1):c.174C>T (p.Asp58=) rs370509332 0.00014
NM_000503.6(EYA1):c.557-12A>G rs373445545 0.00013
NM_000503.6(EYA1):c.1032C>T (p.Tyr344=) rs778091745 0.00011
NM_000503.6(EYA1):c.325T>C (p.Tyr109His) rs141779040 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_000503.6(EYA1):c.399G>A (p.Pro133=) rs146356299 0.00006
NM_000503.6(EYA1):c.1530G>A (p.Ala510=) rs147434089 0.00005
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000503.6(EYA1):c.112A>G (p.Asn38Asp) rs765646278 0.00003
NM_000503.6(EYA1):c.125-13T>C rs753263675 0.00003
NM_000503.6(EYA1):c.1383G>A (p.Arg461=) rs540131742 0.00003
NM_000503.6(EYA1):c.630T>C (p.Ser210=) rs373102227 0.00003
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys) rs772877702 0.00003
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000503.6(EYA1):c.1199+8C>T rs770687311 0.00002
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) rs766713665 0.00002
NM_000503.6(EYA1):c.966+8A>G rs190039495 0.00002
NM_000503.6(EYA1):c.1270G>A (p.Val424Ile) rs746195192 0.00001
NM_000503.6(EYA1):c.1597+8G>A rs984704558 0.00001
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala) rs139194909 0.00001
NM_000503.6(EYA1):c.165G>A (p.Thr55=) rs745425275 0.00001
NM_000503.6(EYA1):c.202+9T>C rs755469377 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.1050+20A>C
NM_000503.6(EYA1):c.1051-18G>A
NM_000503.6(EYA1):c.1080G>T (p.Leu360=)
NM_000503.6(EYA1):c.1140+11A>T rs759981657
NM_000503.6(EYA1):c.1155C>A (p.Val385=)
NM_000503.6(EYA1):c.1199+12T>C
NM_000503.6(EYA1):c.1206T>C (p.Tyr402=)
NM_000503.6(EYA1):c.1264A>C (p.Thr422Pro)
NM_000503.6(EYA1):c.1323A>C (p.Val441=)
NM_000503.6(EYA1):c.1461G>A (p.Ser487=)
NM_000503.6(EYA1):c.1475+10T>A
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.1475+15G>T rs373917012
NM_000503.6(EYA1):c.1488G>A (p.Val496=)
NM_000503.6(EYA1):c.1704G>A (p.Ala568=)
NM_000503.6(EYA1):c.202+8A>T
NM_000503.6(EYA1):c.203-16T>G rs1342337171
NM_000503.6(EYA1):c.255A>G (p.Pro85=)
NM_000503.6(EYA1):c.272+13T>G
NM_000503.6(EYA1):c.272+13_272+14insTA
NM_000503.6(EYA1):c.272+15C>A
NM_000503.6(EYA1):c.272+17del
NM_000503.6(EYA1):c.272+9_272+10insTTTATT
NM_000503.6(EYA1):c.273-10T>G
NM_000503.6(EYA1):c.273-18G>T
NM_000503.6(EYA1):c.273-20C>T
NM_000503.6(EYA1):c.27G>A (p.Pro9=) rs763352962
NM_000503.6(EYA1):c.296C>T (p.Pro99Leu)
NM_000503.6(EYA1):c.384A>G (p.Pro128=)
NM_000503.6(EYA1):c.402C>T (p.Tyr134=)
NM_000503.6(EYA1):c.411C>G (p.Ser137=)
NM_000503.6(EYA1):c.418+10C>G
NM_000503.6(EYA1):c.418+10C>T
NM_000503.6(EYA1):c.418+11T>G
NM_000503.6(EYA1):c.418+15A>G
NM_000503.6(EYA1):c.436A>G (p.Ile146Val)
NM_000503.6(EYA1):c.639+20T>C
NM_000503.6(EYA1):c.640-14G>A
NM_000503.6(EYA1):c.640-16T>C
NM_000503.6(EYA1):c.684G>A (p.Gln228=)
NM_000503.6(EYA1):c.75C>T (p.Leu25=)
NM_000503.6(EYA1):c.783G>T (p.Pro261=)
NM_000503.6(EYA1):c.799A>G (p.Ser267Gly)
NM_000503.6(EYA1):c.806C>A (p.Ala269Glu)
NM_000503.6(EYA1):c.827-20T>C
NM_000503.6(EYA1):c.966+14A>G

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