ClinVar Miner

List of variants in gene CDH23 reported as pathogenic for Usher syndrome

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter) rs771210121 0.00002
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.5(CDH23):c.337del rs2132200416
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022124.6(CDH23):c.1291-1G>A rs2132596686
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs)
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.1949dup (p.Leu651fs) rs753886326
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter) rs1039517349
NM_022124.6(CDH23):c.2878dup (p.Glu960fs)
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys) rs779425775
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7660+1G>T rs1057520662
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.8_9del (p.Arg3fs)
NM_022124.6(CDH23):c.9077+1G>A rs1841885880
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.945+1G>A rs727502919
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367

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