ClinVar Miner

List of variants reported as pathogenic for retinal disorder by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) rs2147706580
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer) rs2147676302
NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr) rs1591299252
NM_001371596.2(MFSD8):c.698+2T>A

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