ClinVar Miner

List of variants in gene GDF6 reported as pathogenic 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: 4
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NM_001001557.4(GDF6):c.125G>T (p.Gly42Val) rs121909354
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) rs63751220

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