ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val) rs367750869 0.00040
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln) rs199508694 0.00026
NM_022124.6(CDH23):c.772A>G (p.Ile258Val) rs370782827 0.00026
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00024
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) rs369697366 0.00022
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352 0.00021
NM_022124.6(CDH23):c.1581G>T (p.Gln527His) rs552906420 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) rs199754104 0.00014
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu) rs201584731 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.838A>G (p.Thr280Ala) rs777244853 0.00011
NM_022124.6(CDH23):c.8465A>G (p.Asp2822Gly) rs373155603 0.00011
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu) rs376453794 0.00009
NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys) rs369740230 0.00008
NM_022124.6(CDH23):c.7657G>A (p.Val2553Met) rs370325211 0.00008
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) rs369776863 0.00008
NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys) rs181843079 0.00007
NM_022124.6(CDH23):c.460G>A (p.Val154Met) rs199741966 0.00006
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) rs758360283 0.00006
NM_022124.6(CDH23):c.8426G>A (p.Arg2809His) rs780409612 0.00006
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) rs746716712 0.00006
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro) rs781716568 0.00006
NM_022124.6(CDH23):c.2536G>A (p.Asp846Asn) rs372807578 0.00005
NM_022124.6(CDH23):c.2875G>A (p.Ala959Thr) rs200196800 0.00005
NM_022124.6(CDH23):c.1429A>G (p.Thr477Ala) rs766615161 0.00004
NM_022124.6(CDH23):c.499G>A (p.Val167Ile) rs772995621 0.00004
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser) rs781280613 0.00004
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His) rs558551826 0.00004
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520 0.00004
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg) rs373649718 0.00004
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.550C>T (p.Arg184Cys) rs779468414 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp) rs750798211 0.00003
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) rs763947401 0.00003
NM_022124.6(CDH23):c.8785G>A (p.Val2929Met) rs781604742 0.00003
NM_022124.6(CDH23):c.9526G>A (p.Glu3176Lys) rs771915739 0.00003
NM_022124.6(CDH23):c.9760G>A (p.Glu3254Lys) rs369713078 0.00003
NM_022124.6(CDH23):c.2581A>G (p.Thr861Ala) rs764615920 0.00002
NM_022124.6(CDH23):c.4250G>A (p.Arg1417Gln) rs369353175 0.00002
NM_022124.6(CDH23):c.4787G>A (p.Arg1596His) rs553571175 0.00002
NM_022124.6(CDH23):c.4825G>A (p.Glu1609Lys) rs563582184 0.00002
NM_022124.6(CDH23):c.5335G>C (p.Val1779Leu) rs376114326 0.00002
NM_022124.6(CDH23):c.6248C>T (p.Pro2083Leu) rs752271639 0.00002
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln) rs1235821368 0.00002
NM_022124.6(CDH23):c.8774C>T (p.Pro2925Leu) rs763128745 0.00002
NM_022124.6(CDH23):c.9311G>T (p.Gly3104Val) rs376432892 0.00002
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu) rs368597074 0.00001
NM_022124.6(CDH23):c.1652T>G (p.Val551Gly) rs1251632622 0.00001
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) rs764332602 0.00001
NM_022124.6(CDH23):c.2462A>G (p.Asn821Ser) rs774080275 0.00001
NM_022124.6(CDH23):c.2512G>A (p.Ala838Thr) rs755280494 0.00001
NM_022124.6(CDH23):c.2966A>G (p.Asn989Ser) rs1158243543 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.311A>G (p.Glu104Gly) rs372335230 0.00001
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg) rs747673739 0.00001
NM_022124.6(CDH23):c.523T>C (p.Ser175Pro) rs756340333 0.00001
NM_022124.6(CDH23):c.5432G>A (p.Arg1811Gln) rs776972162 0.00001
NM_022124.6(CDH23):c.6562G>A (p.Glu2188Lys) rs1444432865 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.7846A>G (p.Asn2616Asp) rs761970568 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022124.6(CDH23):c.9775C>T (p.His3259Tyr) rs1064795569 0.00001
NM_022124.6(CDH23):c.997A>T (p.Thr333Ser) rs371005464 0.00001
NM_022124.6(CDH23):c.10024G>A (p.Asp3342Asn)
NM_022124.6(CDH23):c.1004A>G (p.Asn335Ser) rs539249395
NM_022124.6(CDH23):c.113C>T (p.Thr38Ile)
NM_022124.6(CDH23):c.1154T>C (p.Met385Thr)
NM_022124.6(CDH23):c.1179C>A (p.Asn393Lys)
NM_022124.6(CDH23):c.139C>T (p.Pro47Ser)
NM_022124.6(CDH23):c.1458C>G (p.Asp486Glu)
NM_022124.6(CDH23):c.1691A>G (p.Asp564Gly)
NM_022124.6(CDH23):c.1720G>A (p.Glu574Lys)
NM_022124.6(CDH23):c.211G>T (p.Gly71Trp)
NM_022124.6(CDH23):c.2267A>C (p.Asn756Thr)
NM_022124.6(CDH23):c.2389G>A (p.Val797Met)
NM_022124.6(CDH23):c.2467T>C (p.Phe823Leu)
NM_022124.6(CDH23):c.2612C>G (p.Thr871Ser)
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) rs2132740122
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) rs765094120
NM_022124.6(CDH23):c.3053A>G (p.Asn1018Ser)
NM_022124.6(CDH23):c.4279A>G (p.Ser1427Gly)
NM_022124.6(CDH23):c.4391C>A (p.Ala1464Glu) rs374362883
NM_022124.6(CDH23):c.4445C>T (p.Ala1482Val)
NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys) rs775013186
NM_022124.6(CDH23):c.474C>A (p.Asp158Glu)
NM_022124.6(CDH23):c.4797C>G (p.Phe1599Leu)
NM_022124.6(CDH23):c.4832C>T (p.Thr1611Ile)
NM_022124.6(CDH23):c.5147A>T (p.Gln1716Leu)
NM_022124.6(CDH23):c.5149T>A (p.Cys1717Ser)
NM_022124.6(CDH23):c.5264C>T (p.Thr1755Ile)
NM_022124.6(CDH23):c.5276C>T (p.Pro1759Leu)
NM_022124.6(CDH23):c.5452A>G (p.Asn1818Asp)
NM_022124.6(CDH23):c.5920G>A (p.Ala1974Thr)
NM_022124.6(CDH23):c.5959G>A (p.Ala1987Thr)
NM_022124.6(CDH23):c.6025C>G (p.Leu2009Val)
NM_022124.6(CDH23):c.6038A>G (p.Asn2013Ser)
NM_022124.6(CDH23):c.6170T>C (p.Ile2057Thr)
NM_022124.6(CDH23):c.6439A>G (p.Thr2147Ala)
NM_022124.6(CDH23):c.6464C>T (p.Ser2155Leu)
NM_022124.6(CDH23):c.6631A>G (p.Ile2211Val)
NM_022124.6(CDH23):c.6725T>C (p.Val2242Ala)
NM_022124.6(CDH23):c.6928A>G (p.Thr2310Ala)
NM_022124.6(CDH23):c.6929C>T (p.Thr2310Ile)
NM_022124.6(CDH23):c.7006C>A (p.Leu2336Met)
NM_022124.6(CDH23):c.7197C>A (p.Asn2399Lys)
NM_022124.6(CDH23):c.763G>A (p.Val255Met)
NM_022124.6(CDH23):c.766C>A (p.Arg256Ser)
NM_022124.6(CDH23):c.7759G>A (p.Gly2587Arg)
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.8073G>T (p.Leu2691Phe)
NM_022124.6(CDH23):c.8089G>A (p.Gly2697Ser)
NM_022124.6(CDH23):c.8117A>T (p.Gln2706Leu)
NM_022124.6(CDH23):c.8193G>C (p.Gln2731His) rs577340423
NM_022124.6(CDH23):c.8285C>T (p.Ala2762Val)
NM_022124.6(CDH23):c.8336T>C (p.Leu2779Pro)
NM_022124.6(CDH23):c.8346T>A (p.Asp2782Glu)
NM_022124.6(CDH23):c.8416T>A (p.Ser2806Thr)
NM_022124.6(CDH23):c.8429G>A (p.Ser2810Asn)
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.8521G>A (p.Asp2841Asn)
NM_022124.6(CDH23):c.8585G>A (p.Gly2862Asp)
NM_022124.6(CDH23):c.862T>C (p.Tyr288His)
NM_022124.6(CDH23):c.8648A>C (p.Tyr2883Ser) rs1447857170
NM_022124.6(CDH23):c.8675G>A (p.Arg2892Gln)
NM_022124.6(CDH23):c.8804G>A (p.Arg2935Gln)
NM_022124.6(CDH23):c.8813C>A (p.Ala2938Glu)
NM_022124.6(CDH23):c.9248T>C (p.Phe3083Ser)
NM_022124.6(CDH23):c.9437C>T (p.Ala3146Val) rs779480321
NM_022124.6(CDH23):c.9441G>C (p.Glu3147Asp)
NM_022124.6(CDH23):c.9581A>T (p.Glu3194Val)
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022124.6(CDH23):c.9866C>T (p.Thr3289Met)
NM_022124.6(CDH23):c.9929G>A (p.Arg3310His)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.