ClinVar Miner

List of variants in gene CDH23, LOC111982869 studied for Usher syndrome type 1D

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748 0.00009
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) rs749501038 0.00004
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly) rs754761193 0.00004
NM_022124.6(CDH23):c.8064+13C>A rs374981343 0.00004
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) rs749342092 0.00003
NM_022124.6(CDH23):c.7978del (p.Asp2660fs) rs2132983724

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