ClinVar Miner

List of variants reported as likely pathogenic for perceptual disorders by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
NM_001614.5(ACTG1):c.440G>A (p.Arg147His) rs2143779222
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys) rs2143775790
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr) rs1952754017

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