ClinVar Miner

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

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) rs1931625420
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_006269.2(RP1):c.2001del (p.Val668fs)

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