ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance for Usher syndrome type 1D

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_022124.6(CDH23):c.1515-12G>A rs369396703
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536

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