List of variants studied for Larsen syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001457.4(FLNB):c.292+8C>A	rs9831243	0.01775
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)	rs62621996	0.00994
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met)	rs62621999	0.00943
NM_001457.4(FLNB):c.5426-10G>A	rs183917041	0.00264
NM_001457.4(FLNB):c.808A>G (p.Met270Val)	rs145036794	0.00096
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val)	rs148101195	0.00043
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp)	rs773943113	0.00022
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met)	rs200993986	0.00021
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)	rs200677473	0.00021
NM_001457.4(FLNB):c.4986C>T (p.Ala1662=)	rs200905679	0.00017
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys)	rs368965386	0.00004
NM_001457.4(FLNB):c.3724+4G>C	rs993620203	0.00003
NM_001457.4(FLNB):c.2523T>G (p.Pro841=)	rs376893941	0.00002
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)	rs200947960	0.00002
NM_001457.4(FLNB):c.3350A>G (p.His1117Arg)	rs779765790	0.00001
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile)	rs761698437	0.00001
NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln)	rs755928543
NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala)	rs886044175

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