ClinVar Miner

List of variants studied for perceptual disorders by Clinical Genetics Laboratory, Skane University Hospital Lund

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_006735.4(HOXA2):c.251del (p.Pro84fs)
NM_145200.5(CABP4):c.256del (p.Ala86fs)
NM_206933.4(USH2A):c.9055+3G>A

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