ClinVar Miner

List of variants in gene LIFR reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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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
NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter) rs1746736672 0.00001
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter) rs2112457636
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs) rs1561179853
NM_001127671.2(LIFR):c.2013dup (p.Met672fs) rs1430793861
NM_001127671.2(LIFR):c.2034del (p.Ser679fs)
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter) rs756675225
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)
NM_001127671.2(LIFR):c.2497+1G>A
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.703_704del (p.Trp235fs)
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552

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