ClinVar Miner

List of variants in gene IMPDH1, LOC107986845 studied for Leber congenital amaurosis

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NR_148338.1(LOC107986845):n.884G>A rs183121204 0.00938
NM_000883.4(IMPDH1):c.*721G>A rs186714165 0.00177
NM_000883.4(IMPDH1):c.*694C>A rs1179467429 0.00001
NM_000883.4(IMPDH1):c.*722C>T rs886061980 0.00001

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