ClinVar Miner

List of variants in gene CDH23 studied for Hearing loss, autosomal recessive

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.9198+13C>T rs375384238 0.00061
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725 0.00011
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser) rs780917129 0.00001
NM_022124.6(CDH23):c.*117dup rs886047145
NM_022124.6(CDH23):c.-197GAGCGGC[3] rs527578984
NM_022124.6(CDH23):c.-197GAGCGGC[5] rs527578984
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) rs886047133
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg) rs552998089
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.7661-9C>T rs577559462
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) rs1564805114
NM_022124.6(CDH23):c.9585T>G (p.Tyr3195Ter)

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