List of variants reported as pathogenic for spondylocarpotarsal synostosis syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter)	rs80356519	0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)	rs80356520	0.00001
NM_001457.4(FLNB):c.1592dup (p.His532fs)	rs746105983
NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter)	rs121908898
NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter)	rs121908897
NM_001457.4(FLNB):c.6408del (p.Ser2137fs)	rs80356521

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