ClinVar Miner

List of variants in gene CDH23 studied for Hearing impairment

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) rs199668532 0.00009
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_022124.6(CDH23):c.9941C>T (p.Thr3314Met) rs559427378 0.00006
NM_022124.6(CDH23):c.2159G>A (p.Arg720Gln) rs768074758 0.00002
NM_022124.6(CDH23):c.6546C>T (p.Ser2182=) rs749008207 0.00001
NM_022124.6(CDH23):c.6980T>A (p.Leu2327His) rs995094571 0.00001
NM_022124.6(CDH23):c.1129G>A (p.Asp377Asn) rs779502033
NM_022124.6(CDH23):c.1484T>G (p.Val495Gly) rs2132664465
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp) rs2132751525
NM_022124.6(CDH23):c.8299T>C (p.Phe2767Leu) rs370903798
NM_022124.6(CDH23):c.833G>A (p.Gly278Glu) rs1861130719

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