List of variants reported as pathogenic for Stuve-Wiedemann syndrome

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)	rs199775294	0.00002
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)	rs765622323	0.00001
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter)	rs121912501	0.00001
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala)	rs863225047	0.00001
NC_000005.10:g.55247753A>G	rs1579734448
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs)	rs1561179853
NM_001127671.2(LIFR):c.2013dup (p.Met672fs)	rs1430793861
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter)	rs756675225
NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter)	rs1580117891
NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter)	rs779829941
NM_001127671.2(LIFR):c.653dup (p.Glu219fs)	rs886042160
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)	rs1745753552
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter)	rs1580817729

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