ClinVar Miner

List of variants in gene GDF6 reported as pathogenic for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) rs1401531865

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