ClinVar Miner

List of variants in gene CDH23 reported as pathogenic for Deafness, autosomal recessive 12

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Total variants: 26
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HGVS dbSNP
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.1934A>G (p.Asp645Gly) rs1390562340
NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs) rs1554856042
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087
NM_022124.6(CDH23):c.3181G>A (p.Glu1061Lys) rs1060499793
NM_022124.6(CDH23):c.4877A>C (p.Asp1626Ala) rs1554871816
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5369-1G>T rs1564791773
NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser) rs121908352
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6667del (p.Leu2223fs) rs1554874879
NM_022124.6(CDH23):c.6712+1G>A rs1554874900
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354
NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys) rs1264310782
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355
NM_022124.6(CDH23):c.9129del (p.Asn3044fs) rs1554877797

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