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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_020634.3(GDF3):c.637G>A (p.Gly213Arg)	rs12819884	0.25253
NM_020634.3(GDF3):c.123C>G (p.Pro41=)	rs17727707	0.06107
NM_020634.3(GDF3):c.982G>C (p.Val328Leu)	rs2302516	0.02095
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	rs140926412	0.00188
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp)	rs112895783	0.00165
NM_020634.3(GDF3):c.480C>T (p.Thr160=)	rs141133108	0.00018
NM_020634.3(GDF3):c.635C>T (p.Ser212Leu)	rs372790667	0.00010
NM_020634.3(GDF3):c.161T>C (p.Ile54Thr)	rs910081119	0.00001
NM_020634.3(GDF3):c.186G>A (p.Ala62=)	rs752330502	0.00001
NM_020634.3(GDF3):c.709A>G (p.Thr237Ala)	rs934067367	0.00001
NM_020634.3(GDF3):c.751G>A (p.Ala251Thr)	rs764970795	0.00001
NM_020634.3(GDF3):c.910T>C (p.Ser304Pro)	rs774437736	0.00001
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)	rs387906945	0.00001
NC_000012.11:g.(?_6945914)_(9027627_?)dup
NM_020634.3(GDF3):c.288G>T (p.Lys96Asn)
NM_020634.3(GDF3):c.434T>C (p.Leu145Pro)
NM_020634.3(GDF3):c.579C>T (p.Asn193=)	rs144017935

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