ClinVar Miner

List of variants in gene GDF6 reported as likely benign for Klippel-Feil syndrome 1, autosomal dominant

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_001001557.3(GDF6):c.*2243G>C rs142786788
NM_001001557.4(GDF6):c.*1084C>A rs77181285
NM_001001557.4(GDF6):c.*1090G>C rs80085212
NM_001001557.4(GDF6):c.*1429_*1430del rs139734303
NM_001001557.4(GDF6):c.*144G>A rs115887213
NM_001001557.4(GDF6):c.*165C>T rs117125307
NM_001001557.4(GDF6):c.*1671C>T rs191538930
NM_001001557.4(GDF6):c.*172A>G rs115207215
NM_001001557.4(GDF6):c.*2001A>G rs36028712
NM_001001557.4(GDF6):c.*2122C>T rs183472001
NM_001001557.4(GDF6):c.*2170A>C rs141085775
NM_001001557.4(GDF6):c.*2195C>T rs114060293
NM_001001557.4(GDF6):c.*2214C>T rs188995955
NM_001001557.4(GDF6):c.*28G>A rs367847329
NM_001001557.4(GDF6):c.*577A>T rs75587676
NM_001001557.4(GDF6):c.*767T>C rs569599062
NM_001001557.4(GDF6):c.*781G>A rs528002823
NM_001001557.4(GDF6):c.*842T>C rs192657480
NM_001001557.4(GDF6):c.*998G>C rs114201878
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014
NM_001001557.4(GDF6):c.741G>A (p.Ala247=) rs563560538
NM_001001557.4(GDF6):c.742C>A (p.Arg248Ser) rs750809706
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809

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