ClinVar Miner

List of variants in gene EYA1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC
EYA1, 1-BP INS, 387T
EYA1, ALU INS, EX10
NC_000008.10:g.(?_72111555)_(72268741_?)del
NC_000008.10:g.(?_72156818)_(72234523_?)del
NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) rs1554615536
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1200-1G>A rs1563634200
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1327_1328GA[1] (p.Glu443fs) rs1554596461
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs)
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs)
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) rs121909200
NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg) rs121909201
NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) rs1481254965
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) rs606231355
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773
NM_000503.6(EYA1):c.532del (p.Ala178fs) rs1554548840
NM_000503.6(EYA1):c.640-15_698del rs1554541834
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter)
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) rs1563422304
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.966+5G>A rs606231357

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