ClinVar Miner

List of variants studied for Klippel-Feil syndrome 3, autosomal dominant

Included ClinVar conditions (1):
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Total variants: 9
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NM_020634.3(GDF3):c.161T>C (p.Ile54Thr) rs910081119
NM_020634.3(GDF3):c.480C>T (p.Thr160=) rs141133108
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp) rs112895783
NM_020634.3(GDF3):c.635C>T (p.Ser212Leu) rs372790667
NM_020634.3(GDF3):c.709A>G (p.Thr237Ala) rs934067367
NM_020634.3(GDF3):c.751G>A (p.Ala251Thr)
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412
NM_020634.3(GDF3):c.910T>C (p.Ser304Pro) rs774437736
NM_020634.3(GDF3):c.982G>C (p.Val328Leu) rs2302516

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