ClinVar Miner

List of variants reported as uncertain significance for Cleft lip/palate-ectodermal dysplasia syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_002855.5(NECTIN1):c.*3440G>A rs113799084 0.01372
NM_002855.5(NECTIN1):c.*2413A>G rs78968779 0.01307
NM_002855.5(NECTIN1):c.*1139G>A rs60405761 0.00920
NM_002855.5(NECTIN1):c.596G>A (p.Arg199Gln) rs78809001 0.00872
NM_002855.5(NECTIN1):c.*1554G>A rs77555237 0.00835
NM_002855.5(NECTIN1):c.*532T>C rs138678304 0.00777
NM_002855.5(NECTIN1):c.264C>T (p.Ser88=) rs7131391 0.00772
NM_002855.5(NECTIN1):c.*607C>A rs187441699 0.00715
NM_002855.5(NECTIN1):c.*1132G>A rs147857166 0.00595
NM_002855.5(NECTIN1):c.*1337T>C rs114244021 0.00558
NM_002855.5(NECTIN1):c.*2416A>G rs370905459 0.00417
NM_002855.5(NECTIN1):c.*3714A>T rs146163519 0.00375
NM_002855.5(NECTIN1):c.*481C>T rs148928883 0.00341
NM_002855.5(NECTIN1):c.*2751G>A rs368910346 0.00332
NM_002855.5(NECTIN1):c.*185T>C rs543648905 0.00248
NM_002855.5(NECTIN1):c.*315T>C rs565357962 0.00247
NM_002855.5(NECTIN1):c.*84C>T rs559757852 0.00236
NM_002855.5(NECTIN1):c.*2509G>A rs116014183 0.00205
NM_002855.5(NECTIN1):c.*3136G>A rs76084281 0.00161
NM_002855.5(NECTIN1):c.*352C>T rs59681945 0.00157
NM_002855.5(NECTIN1):c.635G>A (p.Arg212His) rs142930935 0.00157
NM_002855.5(NECTIN1):c.*3194C>T rs536746735 0.00112
NM_002855.5(NECTIN1):c.*736C>T rs561395081 0.00092
NM_002855.5(NECTIN1):c.629G>A (p.Arg210His) rs142863092 0.00087
NM_002855.5(NECTIN1):c.*152C>A rs541555437 0.00086
NM_002855.5(NECTIN1):c.*1595C>A rs368193026 0.00082
NM_002855.5(NECTIN1):c.*3705G>A rs184430239 0.00082
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser) rs137991779 0.00077
NM_002855.5(NECTIN1):c.*1120T>A rs570248260 0.00066
NM_002855.5(NECTIN1):c.*296T>C rs769907939 0.00060
NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=) rs146113849 0.00059
NM_002855.5(NECTIN1):c.423G>A (p.Thr141=) rs142753103 0.00058
NM_002855.5(NECTIN1):c.*3545C>G rs569437093 0.00056
NM_002855.5(NECTIN1):c.*3636G>A rs981570094 0.00051
NM_002855.5(NECTIN1):c.*1555C>T rs1023855669 0.00041
NM_002855.5(NECTIN1):c.565T>C (p.Leu189=) rs140389200 0.00041
NM_002855.5(NECTIN1):c.375G>A (p.Glu125=) rs146919951 0.00037
NM_002855.5(NECTIN1):c.*2374C>T rs753029528 0.00036
NM_002855.5(NECTIN1):c.561T>A (p.Thr187=) rs144990451 0.00035
NM_002855.5(NECTIN1):c.*348C>T rs748100409 0.00033
NM_002855.5(NECTIN1):c.*3567G>A rs181207779 0.00031
NM_002855.5(NECTIN1):c.*1382T>C rs545288869 0.00027
NM_002855.5(NECTIN1):c.*1330G>C rs891490437 0.00026
NM_002855.5(NECTIN1):c.*2969A>T rs768510314 0.00026
NM_002855.5(NECTIN1):c.1471G>A (p.Asp491Asn) rs374643713 0.00026
NM_002855.5(NECTIN1):c.618G>A (p.Thr206=) rs146567321 0.00023
NM_002855.5(NECTIN1):c.480G>A (p.Lys160=) rs145986556 0.00019
NM_002855.5(NECTIN1):c.79+4A>G rs542760632 0.00019
NM_002855.5(NECTIN1):c.*3629C>G rs538935498 0.00017
NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=) rs188936128 0.00016
NM_002855.5(NECTIN1):c.*795C>A rs750967066 0.00012
NM_002855.5(NECTIN1):c.*201G>A rs982875298 0.00011
NM_002855.5(NECTIN1):c.*2439G>A rs899031960 0.00010
NM_002855.5(NECTIN1):c.*3425G>A rs963530966 0.00010
NM_002855.5(NECTIN1):c.*1184G>T rs370017613 0.00009
NM_002855.5(NECTIN1):c.*2551T>G rs570496726 0.00009
NM_002855.5(NECTIN1):c.*853C>G rs368934157 0.00009
NM_002855.5(NECTIN1):c.1333G>A (p.Gly445Ser) rs539461545 0.00009
NM_002855.5(NECTIN1):c.1520G>A (p.Gly507Glu) rs202095358 0.00009
NM_002855.5(NECTIN1):c.502C>T (p.Leu168=) rs149093951 0.00009
NM_002855.5(NECTIN1):c.*3365G>A rs574961662 0.00008
NM_002855.5(NECTIN1):c.1182C>T (p.His394=) rs761931104 0.00008
NM_002855.5(NECTIN1):c.*2847C>T rs572933507 0.00006
NM_002855.5(NECTIN1):c.*3032T>C rs774879984 0.00006
NM_002855.5(NECTIN1):c.*886C>T rs992176073 0.00006
NM_002855.5(NECTIN1):c.177C>T (p.Ser59=) rs139418917 0.00006
NM_002855.5(NECTIN1):c.429G>A (p.Met143Ile) rs371142221 0.00006
NM_002855.5(NECTIN1):c.*1368G>A rs576817361 0.00005
NM_002855.5(NECTIN1):c.*521G>C rs998507978 0.00005
NM_002855.5(NECTIN1):c.431-4G>A rs375284374 0.00005
NM_002855.5(NECTIN1):c.*1129A>T rs140371623 0.00004
NM_002855.5(NECTIN1):c.*1266C>T rs1305206364 0.00004
NM_002855.5(NECTIN1):c.*1666C>T rs187027061 0.00004
NM_002855.5(NECTIN1):c.*2397A>C rs964715355 0.00004
NM_002855.5(NECTIN1):c.*2398G>T rs1018126118 0.00004
NM_002855.5(NECTIN1):c.*3488C>T rs139964288 0.00004
NM_002855.5(NECTIN1):c.900C>G (p.Leu300=) rs1294282077 0.00004
NM_002855.5(NECTIN1):c.431-5C>T rs559278757 0.00003
NM_002855.5(NECTIN1):c.682G>A (p.Val228Ile) rs200513188 0.00003
NM_002855.5(NECTIN1):c.*1241T>A rs963747375 0.00002
NM_002855.5(NECTIN1):c.*2355C>T rs1456398872 0.00002
NM_002855.5(NECTIN1):c.*2882G>A rs1200712188 0.00002
NM_002855.5(NECTIN1):c.1422C>T (p.Ala474=) rs763407766 0.00002
NM_002855.5(NECTIN1):c.*1168C>T rs572202348 0.00001
NM_002855.5(NECTIN1):c.*1422G>A rs973497387 0.00001
NM_002855.5(NECTIN1):c.*3185C>T rs778138067 0.00001
NM_002855.5(NECTIN1):c.*3294G>T rs560856416 0.00001
NM_002855.5(NECTIN1):c.*3426C>T rs908923186 0.00001
NM_002855.5(NECTIN1):c.*3634T>C rs1460034515 0.00001
NM_002855.5(NECTIN1):c.*438C>T rs760416313 0.00001
NM_002855.5(NECTIN1):c.-50C>G rs1410948549 0.00001
NM_002855.5(NECTIN1):c.1438G>A (p.Gly480Ser) rs147334676 0.00001
NM_002855.5(NECTIN1):c.*1087G>A rs778554225
NM_002855.5(NECTIN1):c.*1108G>C rs377399603
NM_002855.5(NECTIN1):c.*1126C>T rs543126843
NM_002855.5(NECTIN1):c.*1179C>G rs142206052
NM_002855.5(NECTIN1):c.*1654C>G rs1864696619
NM_002855.5(NECTIN1):c.*165G>T rs574144297
NM_002855.5(NECTIN1):c.*1760C>G rs1864692767
NM_002855.5(NECTIN1):c.*2692C>G rs1864675866
NM_002855.5(NECTIN1):c.*269C>T rs138302957
NM_002855.5(NECTIN1):c.*2733T>C rs79306256
NM_002855.5(NECTIN1):c.*2750C>T rs1433590018
NM_002855.5(NECTIN1):c.*2852T>G rs1864673248
NM_002855.5(NECTIN1):c.*2902A>C rs372246353
NM_002855.5(NECTIN1):c.*3087C>G rs575574028
NM_002855.5(NECTIN1):c.*3174C>A rs1864665824
NM_002855.5(NECTIN1):c.*3351G>A rs1051657215
NM_002855.5(NECTIN1):c.*3405A>C rs1864660056
NM_002855.5(NECTIN1):c.*3647G>T rs967644002
NM_002855.5(NECTIN1):c.*46T>C rs1025182829
NM_002855.5(NECTIN1):c.*51G>C rs992478322
NM_002855.5(NECTIN1):c.*53A>C rs1204545098
NM_002855.5(NECTIN1):c.*554G>A rs369160682
NM_002855.5(NECTIN1):c.*72C>G rs59612995
NM_002855.5(NECTIN1):c.*780G>T rs115196807
NM_002855.5(NECTIN1):c.*883T>G rs918038363
NM_002855.5(NECTIN1):c.*917G>T rs979562618
NM_002855.5(NECTIN1):c.*961G>A rs567953400
NM_002855.5(NECTIN1):c.-102C>A rs868396650
NM_002855.5(NECTIN1):c.-146A>C rs1040977053
NM_002855.5(NECTIN1):c.-151A>C rs900655328
NM_002855.5(NECTIN1):c.1019C>A (p.Pro340Gln) rs375956459
NM_002855.5(NECTIN1):c.1078G>A (p.Val360Met) rs758801522
NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=) rs116441631
NM_002855.5(NECTIN1):c.1380T>C (p.Tyr460=) rs1864734746
NM_002855.5(NECTIN1):c.3G>A (p.Met1Ile) rs1865957091
NM_002855.5(NECTIN1):c.42G>C (p.Trp14Cys) rs1591494857
NM_002855.5(NECTIN1):c.444T>C (p.Asn148=) rs1864986117

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