ClinVar Miner

List of variants in gene CDH23 reported as pathogenic for endocrine gland neoplasm

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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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.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
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.2177-2A>G rs1377982927 0.00001
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.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter) rs1306728898 0.00001
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 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.8383C>T (p.Arg2795Ter) rs768834772 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_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 0.00001
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
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.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5985C>A (p.Tyr1995Ter)
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6517G>T (p.Glu2173Ter)
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7730_7734del (p.Phe2577fs)
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.945+1G>T rs727502919
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) rs922700209

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