ClinVar Miner

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

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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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.2444C>G (p.Thr815Arg) rs1744257909 0.00001
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) rs1242667371 0.00001
NM_001127671.2(LIFR):c.1105dup (p.Tyr369fs)
NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs)
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001127671.2(LIFR):c.210del (p.Ser71fs) rs2112564371
NM_001127671.2(LIFR):c.2168-1G>A rs2112393633
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer) rs773896661
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) rs1561159768

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