ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.9335T>C (p.Ile3112Thr) rs201359237 0.00050
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn) rs373836924 0.00021
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439 0.00013
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) rs370912192 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743 0.00009
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln) rs776346516 0.00004
NM_022124.6(CDH23):c.1583G>A (p.Arg528His) rs761468283 0.00001
NM_022124.6(CDH23):c.2462A>G (p.Asn821Ser) rs774080275 0.00001
NM_022124.6(CDH23):c.1099C>T (p.Leu367Phe) rs761039491
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.8230G>A (p.Gly2744Ser)

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