ClinVar Miner

Variants in gene CDH23 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NC_000010.11:g.71645832del rs1589292855
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.2984del (p.Phe995fs) rs1554858698
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.7483-1G>C rs876657682
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022124.6(CDH23):c.9381-2A>G

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