ClinVar Miner

List of variants reported as benign for Klippel-Feil syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_032608.7(MYO18B):c.1641G>C (p.Trp547Cys) rs3859866 0.97472
NM_032608.7(MYO18B):c.1981T>C (p.Trp661Arg) rs5761170 0.96944
NM_032608.7(MYO18B):c.5748+11A>G rs2072007 0.83583
NM_001001557.4(GDF6):c.*380A>G rs2440199 0.66099
NM_032608.7(MYO18B):c.3357C>A (p.His1119Gln) rs5761268 0.64830
NM_032608.7(MYO18B):c.131G>A (p.Gly44Glu) rs133885 0.59120
NM_032608.7(MYO18B):c.2786+39G>A rs2331162 0.58745
NM_032608.7(MYO18B):c.199-3C>T rs133902 0.58447
NM_032608.7(MYO18B):c.2502T>C (p.Gly834=) rs738643 0.58283
NM_032608.7(MYO18B):c.7040A>G (p.Gln2347Arg) rs2236005 0.36742
NM_032608.7(MYO18B):c.3795G>A (p.Gly1265=) rs5996988 0.32734
NM_020634.3(GDF3):c.637G>A (p.Gly213Arg) rs12819884 0.25253
NM_032608.7(MYO18B):c.9C>G (p.Ile3Met) rs61734946 0.13255
NM_001001557.4(GDF6):c.*2001A>G rs36028712 0.07344
NM_020634.3(GDF3):c.123C>G (p.Pro41=) rs17727707 0.06107
NM_001001557.4(GDF6):c.*711G>T rs73698505 0.05287
NM_001001557.4(GDF6):c.*2216C>T rs7003079 0.05046
NM_001001557.4(GDF6):c.*144G>A rs115887213 0.02912
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_001001557.4(GDF6):c.*1090G>C rs80085212 0.02491
NM_020634.3(GDF3):c.982G>C (p.Val328Leu) rs2302516 0.02095
NM_001001557.4(GDF6):c.*998G>C rs114201878 0.02016
NM_001001557.4(GDF6):c.*1084C>A rs77181285 0.02009
NM_001001557.4(GDF6):c.*577A>T rs75587676 0.01881
NM_001001557.4(GDF6):c.*172A>G rs115207215 0.01382
NM_001001557.4(GDF6):c.*2195C>T rs114060293 0.01004
NM_001001557.4(GDF6):c.*2170A>C rs141085775 0.00734
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875 0.00603
NM_001001557.4(GDF6):c.*1978G>A rs112542818 0.00421
NM_001001557.4(GDF6):c.*767T>C rs569599062 0.00369
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_001001557.4(GDF6):c.*1671C>T rs191538930 0.00261
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001001557.4(GDF6):c.*842T>C rs192657480 0.00176
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp) rs112895783 0.00165
NM_001001557.4(GDF6):c.*165C>T rs117125307 0.00088
NM_001001557.4(GDF6):c.*28G>A rs367847329 0.00071
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014 0.00061
NM_001001557.4(GDF6):c.921G>C (p.Ala307=) rs545149100 0.00024
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) rs148321868 0.00022
NM_001001557.4(GDF6):c.407-20A>C rs536565151 0.00016
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) rs561421783 0.00007
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) rs368498747 0.00006
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) rs768532556 0.00006
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg) rs888138096 0.00002
NM_001001557.4(GDF6):c.*781G>A rs528002823 0.00001
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val) rs988646683 0.00001
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) rs748092776 0.00001
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) rs780167779 0.00001
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp) rs1401531865 0.00001
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) rs387906945 0.00001
NM_001001557.4(GDF6):c.*2122C>T rs183472001
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala) rs121909354
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)
NM_001001557.4(GDF6):c.407-10dup
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) rs1444302456
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.980C>A (p.Pro327His) rs121909356
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu) rs1812445302
NM_020634.3(GDF3):c.579C>T (p.Asn193=) rs144017935
NM_032608.7(MYO18B):c.2439C>G (p.Leu813=) rs738642
NM_032608.7(MYO18B):c.530C>T (p.Pro177Leu) rs13058434
NM_032608.7(MYO18B):c.5749-11del rs10600754

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