ClinVar Miner

List of variants studied for perceptual disorders by Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

Included ClinVar conditions (765):
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.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met) rs201001000 0.00003
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
NM_016366.3(CABP2):c.60C>A (p.Leu20=)
NM_033100.4(CDHR1):c.296A>G (p.Glu99Gly)
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) rs1553313073

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