ClinVar Miner

List of variants in gene EYS reported as likely pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.863-2A>C rs761229979 0.00003
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00002
NM_001142800.2(EYS):c.1057-1G>A rs776564041 0.00001
NM_001142800.2(EYS):c.2641+2T>C rs960578029 0.00001
NM_001142800.2(EYS):c.3165-1G>A rs1349089552 0.00001
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.2739-1G>A rs943468139
NM_001142800.2(EYS):c.3568+1G>A rs1767600988
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.749-1G>A rs368159852
NM_001142800.2(EYS):c.749-1G>C rs368159852

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