ClinVar Miner

List of variants studied for EEM syndrome by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 112
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HGVS dbSNP
NM_001793.5(CDH3):c.-1085A>G rs768872455
NM_001793.5(CDH3):c.-140G>T rs886052227
NM_001793.5(CDH3):c.-141C>G rs537339409
NM_001793.5(CDH3):c.-193G>T rs550203444
NM_001793.5(CDH3):c.-267C>T rs182969772
NM_001793.5(CDH3):c.-282G>T rs886052226
NM_001793.5(CDH3):c.-302C>T rs145687049
NM_001793.5(CDH3):c.-399G>C rs74674351
NM_001793.5(CDH3):c.-537A>G rs11644435
NM_001793.5(CDH3):c.-621G>A rs886052225
NM_001793.5(CDH3):c.-626_-620delAAAAAGA rs886052223
NM_001793.5(CDH3):c.-628G>A rs796187375
NM_001793.5(CDH3):c.-629dupA rs11440411
NM_001793.5(CDH3):c.-634_-633insG rs886052224
NM_001793.5(CDH3):c.-635_-634insG rs886052222
NM_001793.5(CDH3):c.-646_-645insA rs886052221
NM_001793.5(CDH3):c.-679T>C rs150247850
NM_001793.5(CDH3):c.-72T>C rs557660477
NM_001793.5(CDH3):c.-983A>G rs151123159
NM_001793.6(CDH3):c.*142C>T
NM_001793.6(CDH3):c.*149G>T
NM_001793.6(CDH3):c.*154G>T rs1886699
NM_001793.6(CDH3):c.*180G>C
NM_001793.6(CDH3):c.*195G>T
NM_001793.6(CDH3):c.*2C>T
NM_001793.6(CDH3):c.*3G>T
NM_001793.6(CDH3):c.*405G>A rs778268579
NM_001793.6(CDH3):c.*485A>G rs192275133
NM_001793.6(CDH3):c.*498G>A rs746152331
NM_001793.6(CDH3):c.*523G>A
NM_001793.6(CDH3):c.*529G>A rs886052235
NM_001793.6(CDH3):c.*535G>A
NM_001793.6(CDH3):c.*595G>A rs111487714
NM_001793.6(CDH3):c.*87G>C rs555473968
NM_001793.6(CDH3):c.*87G>T
NM_001793.6(CDH3):c.-11T>C rs370893872
NM_001793.6(CDH3):c.-36C>T rs373351410
NM_001793.6(CDH3):c.100G>A (p.Ala34Thr) rs749754991
NM_001793.6(CDH3):c.1011G>C (p.Val337=) rs201726457
NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys) rs886052231
NM_001793.6(CDH3):c.1050G>A (p.Thr350=)
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys) rs74026937
NM_001793.6(CDH3):c.109A>T (p.Thr37Ser)
NM_001793.6(CDH3):c.1119C>T (p.Asp373=)
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys) rs766325919
NM_001793.6(CDH3):c.1183-12C>T rs886052232
NM_001793.6(CDH3):c.1221C>T (p.Tyr407=)
NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr) rs145203128
NM_001793.6(CDH3):c.1257G>A (p.Lys419=) rs11860187
NM_001793.6(CDH3):c.1284G>A (p.Val428=)
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) rs34394404
NM_001793.6(CDH3):c.1339G>A (p.Val447Ile) rs145160881
NM_001793.6(CDH3):c.141C>G (p.Pro47=) rs74619658
NM_001793.6(CDH3):c.1430G>A (p.Arg477His) rs34494880
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) rs138190335
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) rs144403828
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) rs35232945
NM_001793.6(CDH3):c.1571-7C>G rs373529822
NM_001793.6(CDH3):c.1593G>A (p.Thr531=) rs147208782
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) rs2296405
NM_001793.6(CDH3):c.1632T>G (p.His544Gln)
NM_001793.6(CDH3):c.1652G>A (p.Arg551His) rs779413254
NM_001793.6(CDH3):c.166A>G (p.Met56Val) rs886052228
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) rs151198926
NM_001793.6(CDH3):c.1689G>C (p.Gln563His) rs1126933
NM_001793.6(CDH3):c.1740G>C (p.Gln580His) rs886052233
NM_001793.6(CDH3):c.1785C>T (p.Val595=) rs376302917
NM_001793.6(CDH3):c.1796-11G>T rs752252704
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala)
NM_001793.6(CDH3):c.1848C>T (p.Asp616=) rs768811436
NM_001793.6(CDH3):c.1932C>T (p.Val644=) rs750805163
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) rs2274239
NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr) rs372221192
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807
NM_001793.6(CDH3):c.2058C>T (p.Pro686=) rs116035854
NM_001793.6(CDH3):c.2061C>T (p.Leu687=)
NM_001793.6(CDH3):c.2070A>G (p.Pro690=) rs886052234
NM_001793.6(CDH3):c.2115G>A (p.Gly705=)
NM_001793.6(CDH3):c.2227A>G (p.Met743Val)
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450
NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr)
NM_001793.6(CDH3):c.2280+7C>T rs114709429
NM_001793.6(CDH3):c.2340C>T (p.Phe780=)
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser) rs34813787
NM_001793.6(CDH3):c.2361C>T (p.Ser787=) rs201352240
NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn)
NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn) rs535174122
NM_001793.6(CDH3):c.2444G>A (p.Arg815His) rs557740168
NM_001793.6(CDH3):c.2469C>T (p.Tyr823=) rs576190086
NM_001793.6(CDH3):c.2484C>T (p.Asp828=) rs202210726
NM_001793.6(CDH3):c.318G>A (p.Lys106=) rs886052229
NM_001793.6(CDH3):c.324T>C (p.Asp108=)
NM_001793.6(CDH3):c.34C>T (p.Leu12Phe)
NM_001793.6(CDH3):c.390+5G>A rs570628442
NM_001793.6(CDH3):c.45+6C>T
NM_001793.6(CDH3):c.46-11C>T
NM_001793.6(CDH3):c.547-12T>C
NM_001793.6(CDH3):c.612C>A (p.Ile204=) rs8049247
NM_001793.6(CDH3):c.651G>C (p.Gln217His)
NM_001793.6(CDH3):c.654C>T (p.Asp218=)
NM_001793.6(CDH3):c.691G>C (p.Gly231Arg) rs886052230
NM_001793.6(CDH3):c.720G>A (p.Thr240=) rs2296409
NM_001793.6(CDH3):c.798C>T (p.His266=)
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900
NM_001793.6(CDH3):c.813C>A (p.Thr271=) rs2296408
NM_001793.6(CDH3):c.820C>T (p.Arg274Trp)
NM_001793.6(CDH3):c.854G>T (p.Gly285Val)
NM_001793.6(CDH3):c.867+6T>C rs753122508
NM_001793.6(CDH3):c.886C>G (p.Leu296Val) rs565345878
NM_001793.6(CDH3):c.909G>T (p.Met303Ile)
NM_001793.6(CDH3):c.918C>T (p.Asp306=) rs201521473
NM_001793.6(CDH3):c.996+13C>T

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