ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022124.6(CDH23):c.551G>A (p.Arg184His) rs201132251 0.00021
NM_022124.6(CDH23):c.5769G>A (p.Lys1923=) rs554353516 0.00018
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met) rs397517319 0.00009
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.1063G>A (p.Val355Met) rs374571664 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425 0.00004
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494 0.00002
NM_022124.6(CDH23):c.4781G>A (p.Arg1594His) rs368368136 0.00001
NM_022124.6(CDH23):c.9380+3G>T rs1289786818 0.00001
NM_022124.6(CDH23):c.1149C>A (p.Asn383Lys)
NM_022124.6(CDH23):c.1241G>T (p.Arg414Leu)
NM_022124.6(CDH23):c.1550T>G (p.Leu517Arg) rs1554854090
NM_022124.6(CDH23):c.1606C>T (p.Arg536Trp) rs564161575
NM_022124.6(CDH23):c.1853A>G (p.Tyr618Cys) rs778493031
NM_022124.6(CDH23):c.2171G>C (p.Arg724Pro) rs374955091
NM_022124.6(CDH23):c.2659G>T (p.Asp887Tyr) rs775481022
NM_022124.6(CDH23):c.2741C>A (p.Ala914Asp)
NM_022124.6(CDH23):c.4432G>A (p.Glu1478Lys)
NM_022124.6(CDH23):c.5131G>T (p.Val1711Phe)
NM_022124.6(CDH23):c.766C>T (p.Arg256Cys) rs779764465
NM_022124.6(CDH23):c.8722+4G>A
NM_022124.6(CDH23):c.8723-1_8728del rs1589436809
NM_022124.6(CDH23):c.9257T>G (p.Met3086Arg) rs748821302
NM_022124.6(CDH23):c.9634G>A (p.Gly3212Ser)

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