ClinVar Miner

List of variants studied for corneal disorder by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr) rs558035857 0.00012
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001

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