ClinVar Miner

List of variants in gene LIFR reported as pathogenic for Stüve-Wiedemann syndrome

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Total variants: 8
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NM_001127671.2(LIFR):c.171_174del (p.Asn58fs) rs1561179853
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) rs121912501
NM_001127671.2(LIFR):c.2013dup (p.Met672fs) rs1430793861
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala) rs863225047
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

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