ClinVar Miner

List of variants studied for retinal disorder by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu) rs2152594747
NM_001376.5(DYNC1H1):c.8929C>T (p.Arg2977Trp)
NM_012193.4(FZD4):c.1273del (p.Thr425fs)
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) rs878853243

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