ClinVar Miner

List of variants reported as benign for Klippel-Feil syndrome 1, autosomal dominant by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001001557.4(GDF6):c.*380A>G rs2440199 0.66099
NM_001001557.4(GDF6):c.*2001A>G rs36028712 0.07344
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_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.*1978G>A rs112542818 0.00421
NM_001001557.4(GDF6):c.*767T>C rs569599062 0.00369
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.*842T>C rs192657480 0.00176
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.*781G>A rs528002823 0.00001
NM_001001557.4(GDF6):c.*2122C>T rs183472001
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590

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