ClinVar Miner

List of variants studied for retinal disorder by Department of Human Genetics, Hannover Medical School

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_000350.3(ABCA4):c.2894A>T (p.Asn965Ile)
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys) rs62645943
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs) rs1659200106
NM_004523.4(KIF11):c.1935_1936del (p.Ser646fs)

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