List of variants reported as uncertain significance for Exostoses, multiple, type 2 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)	rs138495222	0.00063
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)	rs138943091	0.00046
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)	rs141035971	0.00044
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)	rs145024832	0.00031
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)	rs373582542	0.00021
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp)	rs757297287	0.00005
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)	rs145903120	0.00004
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)	rs549810739	0.00004
NM_207122.2(EXT2):c.-31+453A>G	rs1032612888	0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr)	rs1326355711	0.00001
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.181C>T (p.Arg61Cys)
NM_207122.2(EXT2):c.2019-2del
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del)	rs753223281
NM_207122.2(EXT2):c.2132G>C (p.Ser711Thr)
NM_207122.2(EXT2):c.29G>A (p.Arg10Gln)
NM_207122.2(EXT2):c.979G>C (p.Gly327Arg)	rs200427972

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