List of variants studied for Klippel-Feil syndrome by Baylor Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_032608.7(MYO18B):c.5239C>T (p.Arg1747Cys)	rs200325801	0.00111
NM_032608.7(MYO18B):c.362C>G (p.Thr121Arg)	rs372175819	0.00039
NM_032608.7(MYO18B):c.611C>T (p.Ala204Val)	rs530488010	0.00015
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	rs397514725	0.00006
NM_032608.7(MYO18B):c.3527C>T (p.Pro1176Leu)	rs533353146	0.00006
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	rs121909353	0.00003
NM_032608.7(MYO18B):c.3509C>T (p.Ala1170Val)	rs754177763	0.00002
NM_032608.7(MYO18B):c.3544C>G (p.Leu1182Val)	rs745646260	0.00002
NM_032608.7(MYO18B):c.2626C>T (p.Arg876Ter)	rs267606197
NM_032608.7(MYO18B):c.5684G>A (p.Arg1895His)	rs370592345
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387

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