ClinVar Miner

List of variants in gene EYA4 reported as likely pathogenic for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.580G>A (p.Asp194Asn) rs1199874172 0.00001
NM_004100.5(EYA4):c.209-1G>A rs1441151762
NM_004100.5(EYA4):c.277+1G>A
NM_004100.5(EYA4):c.33+2T>G rs2128268726
NM_004100.5(EYA4):c.370+1G>T
NM_004100.5(EYA4):c.371-2A>G
NM_004100.5(EYA4):c.970+1G>A rs2128674984
NM_004100.5(EYA4):c.970+1G>T rs2128674984
NM_004100.5(EYA4):c.971-2A>G rs1562470903

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