ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00008
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His) rs746971522 0.00004
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00003
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00002
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) rs763721044 0.00002
NM_022124.6(CDH23):c.9199-4G>A rs369900526 0.00002
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.2591G>T (p.Gly864Val) rs1317670560 0.00001
NM_022124.6(CDH23):c.2954-2A>G rs1865810132 0.00001
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys) rs764025875 0.00001
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.6712+1G>A rs1554874900 0.00001
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs) rs1841497902 0.00001
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00001
NC_000010.11:g.71682535dup rs753886326
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg) rs2493815701
NM_022124.6(CDH23):c.1395C>A (p.Tyr465Ter)
NM_022124.6(CDH23):c.145+1G>T rs1850169561
NM_022124.6(CDH23):c.2323del (p.His775fs)
NM_022124.6(CDH23):c.2419del (p.Leu807fs)
NM_022124.6(CDH23):c.2476del (p.Leu826fs) rs1865609793
NM_022124.6(CDH23):c.2587+1G>T
NM_022124.6(CDH23):c.2730C>G (p.Tyr910Ter)
NM_022124.6(CDH23):c.289-1G>C
NM_022124.6(CDH23):c.3247_3248del (p.Thr1083fs)
NM_022124.6(CDH23):c.337-2A>G
NM_022124.6(CDH23):c.3619del (p.Val1207fs)
NM_022124.6(CDH23):c.4102_4103delinsTATCTTGAA (p.Thr1368fs)
NM_022124.6(CDH23):c.4105-1G>A
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.4594_4597del (p.Gly1532fs)
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.5256dup (p.Glu1753Ter)
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) rs397517337
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.5434G>T (p.Glu1812Ter)
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.6254-12_6258del
NM_022124.6(CDH23):c.6254-2A>C
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6973A>T (p.Lys2325Ter)
NM_022124.6(CDH23):c.7033C>T (p.Gln2345Ter)
NM_022124.6(CDH23):c.7225del
NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter) rs2132977459
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8191C>T (p.Gln2731Ter)
NM_022124.6(CDH23):c.8287_8290del (p.Ile2763fs)
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.833-1G>A
NM_022124.6(CDH23):c.8352del (p.Leu2785fs) rs1483001216
NM_022124.6(CDH23):c.918C>G (p.Tyr306Ter)
NM_022124.6(CDH23):c.9198+2T>A rs1841921374
NM_022124.6(CDH23):c.9207dup (p.Ile3070fs)
NM_022124.6(CDH23):c.9254del (p.Leu3085fs) rs773926246
NM_022124.6(CDH23):c.9280_9286del rs2133002929
NM_022124.6(CDH23):c.9381-2A>G rs1841971198
NM_022124.6(CDH23):c.9511-2A>C
NM_022124.6(CDH23):c.9634-1G>A

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