ClinVar Miner

List of variants in gene EYS reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_001142800.2(EYS):c.3443+1G>T rs373441420
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.7229-1G>A rs1554171033
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8153_8154CA[1] (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9075_9078AGAA[1] (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) rs1165454778
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190

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